 And now I yield the floor to Eric for his director's reports. Thank you, Rudy. I would like to once again welcome all of you to this open session of the National Advisory Council for Human Genome Research. As you can see, in light of the current situation with the COVID-19 pandemic, I once again find myself alone in my conference room, giving this director's report. But we aim to make the best of it and look forward to a day when I can give director's report with live people in the room with me as well. As with the rest of the open session, my director's report presentation is being videotaped and that recording will be made available as a permanent archive on NHGRI's website, genome.gov. For those who are new to our council meetings, I want to make you aware of this detailed electronic resource that the communications team was put together associated with my director's report analogous to a supplemental material section of a published paper. The resource can be accessed at the URL shown at the bottom. And the slides that I'll show during my director's report are also available to you electronically either in PDF or PowerPoint formats. Meanwhile, when there's a relevant document that's on this electronic resource associated with a particular slide, you'll see a document number indicated in the bottom right of that slide. That document number references either a website or a document that you can download relevant to the material being covered on that slide. And this webpage and all the associated linked materials will also be archived on genome.gov as part of a historic record of my director's report. There's a number of other presentations during the open session's council meeting that will take place. My director's report is tailored around those presentations. I'm not going to discuss in detail any of the topics that other people will cover later in the day. Following my director's report, Rick Weicheck, who is the director of NIH's National Institute of Environmental Health Sciences, will join us and speak about the expanding the capacity to conduct gene by environment experiments. Next, Marilyn Richie, who's director of the Center for Translational Bioinformatics, the University of Pennsylvania School of Medicine, will present a report from the future directions of the NHGRI analysis visualization and informatics lab space or Anvil workshop. And then after those presentations, there will be a concept clearance presented by NHGRI extramural program director, Joana Morales, which is entitled multi-omics for health and disease. And lastly, we'll hear from NHGRI extramural program director, Christine Chang, who will give a presentation on the triennial inclusion report on human subjects participation in NHGRI sponsored research. So that's what's entailed for the rest of the open session. And here are the seven major areas that I'm going to be covering in my director's report, which has reliably provided a very nice framework for covering the material I want to present to you. And I'll start with some general NHGRI updates. Well, the first is a fun one. Last month, NHGRI celebrated something that we have come to regard as a birthday or at least a relevant odometer moment. On January 14, 1997, NHGRI was promoted from being an NIH center, the National Center for Human Genome Research, to being an NIH Institute, the National Human Genome Research Institute. That means that last month, on January 14, we celebrated our 25th year as an institute. So happy quarter century of instituteness to all of us. In terms of personnel, Valentina de Francesco has been appointed as the institute's first data science strategist and chief data science data science strategist, also founding director of a new NHGRI office of genomic data science. Now, in this role, she will provide leadership strategic guidance and coordination for NHGRI activities and programs and policies in genomic data science. Now, for more than seven years, Valentina has been the lead program director for the computational genomics and data science program in the NHGRI external research program, for which she has played a key role in many genomic data science activities, including the Alliance of Genome Resources and the Analysis Visualization and Informatics Lab Space, or Anvil Initiative. She has now completed serving as an interim special advisor to the NHGRI director that is me on data science strategy, something that she's been doing since May of 2021. You can expect to hear more about the new office of genomic data science as Valentina builds it up and out, and congratulations to her for being named the first institute's chief data science strategist. This month, Sarah Wheeland joined the NHGRI external research program as a scientific review officer. Sarah completed her undergraduate studies at the University of Colorado and then obtained an MD and PhD degrees at Johns Hopkins University School of Medicine. She did a brief postdoctoral fellowship at NHLBI before joining Jeff Buka's laboratory at Johns Hopkins University for postdoctoral research. She then joined the faculty at Johns Hopkins University in 2006 and was promoted to associate professor in 2014. Her research interests have centered around the biological impacts of transposable elements in the human genome. In 2009 she co-founded the experimental and computational genomics core, which performs next generation DNA sequencing and bioinformatics analysis for Johns Hopkins University researchers. Welcome to NHGRI Sarah. In the summer of 2021 NHGRI established the training diversity and health equity or something we refer to as the Tide office to support implementation of the diversity and health equity elements in the 2020 NHGRI strategic vision, and also the subsequent action agenda for building a diverse genomics workforce. The office aims to develop support and coordinate NHGRI training and workforce development programs that foster careers in genomics. It also will advise division direct institute divisions and branches about genomics workforce diversity and health equity, and also provides strategic programmatic leadership to reduce health disparities and to advance health equity. The office has already initiated collaborations and conversations with industry professional genomic societies and minority serving institutions to understand and address the barriers to increase the diversity of the genomics workforce and other issues relevant to the office's mission. The office is currently under the leadership of NHGRI acting deputy director Vance Bonham. Staffing the office are Fay Brown, Laura Jetta schools, Jamil Scott, and Amber Jackson. The group is dedicated to making a positive impact on all of the offices pursuits and looks forward to continuing to work across NHGRI the entire Institute across NIH and beyond to support these important initiatives. Meanwhile, Lucia Hindorf has also joined the tide office as the lead extramural training program director. In this role Lucia will oversee the broader NHGRI extramural training efforts. Previously, she was a program director in the division of genomic medicine, leading research programs such as the clinical sequencing evidence generating and the work Caesar program the population architecture using genomics and epidemiology or page consortium and the polygenic risk methods and diverse populations or prime consortium. In addition to the NHGRI European Biomechanical Institute GWAS catalog. Now Lucia will bring her expertise at the intersection of diversity and genomics to work with the extramural program training team and their continued implementation and enhancement of NHGRIs training programs. I want to thank the extra girl program training team for stepping up and keeping the Institute's training programs moving forward for the six months between Lucia's appointment and the departure of her predecessor. And I particularly want to thank Tina Gatlin and Heather colleague in this regard. Another addition to the new tide office is Ebony Madden as the first NHGRI health equity and workforce diversity program director. In this role, Ebony will focus on creating, enhancing and promoting health equity and workforce diversity programs and initiatives across NHGRI with particular emphasis on the work of the extra girl research program. Before joining the tide office, Ebony was a program director in the division of genomic medicine, where she oversaw a research portfolio that included implementing genomics in practice or ignite network to human heredity and health in Africa or H3 Africa program, dissemination and implementation research efforts and genetic counseling research. And lastly, with respect to the tide office Christina Dalton has joined the tide office as the first partnerships and engagement officer. In this role Christina will co-create manage and lead partnerships with a wide range of stakeholders that aim to diversify the genomics workforce and advance health equity. For the past nine years, she has worked as an education outreach specialist in the NHGRI education and community involvement branch being involved in many genomics education and engagement efforts, such as the annual short course in genomics, the tribal college consortium on genomics training and the community engagement in genomics working. Now the office being staffed is getting to work. And so in July and September of 2021, the tide office hosted two industry roundtables on diversifying the genomics workforce. These industry roundtables, which to be honest with you were really more like rectangular zoom rooms not roundtables but you get the idea. We have over 20 industry representatives together from biotech and genomics oriented companies to discuss the urgent need to diversify the professionals in the fields of genetics and genomics. The objective of the roundtables was to create an open environment for industry representatives and NHGRI staff to discuss strategies and methods of collaboration to attain a more diverse genomics workforce. And an early media report from these roundtables is forthcoming with objectives, themes, and next steps of engagement. Now on a related development, the scientific community has long debated the use of different types of population descriptors in research. And I'm now pleased to announce that following months of internal planning, NIH is now actively is now actively sponsoring a National Academies of Sciences, Engineering and Medicine or NASA consensus study that will provide guidance on the use of race, ethnicity and genetic ancestry in genomics research. 14 NIH Institute Center's offices and programs have come together to cosponsor the NASA consensus study, which began in October 2021, and will conclude in February of 2023. NHGRI is serving as one of the co-lead institutes of the study. Just last week, the National Academies announced that they have convened the study's 17 member expert committee from the fields of genomics medicine and social science, who will now review and assess the existing methodologies, benefits and challenges and the use of race and ethnicity and other population descriptors in genomics research. Over the course of the study period, the National Academies will host three public meetings that will facilitate dialogue and capture input. And the final report is expected to be released in February of next year. The genomics and health disparities lecture series is co-sponsored by NHGRI, the National Heart, London Blood Institute, the National Institute of Diabetes and Digestive and Kidney Diseases, the National Institute on Minority Health and Health Disparities, and also the Office of Minority Health at the Food and Drug Administration. I've talked about the series multiple time, it covers a range of topics from basic science to translational research. In December, we were delighted that this lecture series featured Alondra Nelson, who currently serves as the inaugural Deputy Director for Science and Society in the White House Office of Science and Technology Policy. In this role, she is bringing her social science expertise, including attention to issues of social inequity into the work of federal science and technology strategy and policy. She is also well known as an author most recently of the book The Social Life of DNA, Race, Reparations and Reconciliation After the Genome. And a video recording of her talk is available on our Genome TV channel of YouTube. Moving on, each year the President of the United States recognizes and celebrates a small group of career federal government senior executives and senior career employees with the Presidential Rank Award for the exceptional long term accomplishments. Terry Medoglio, Director of NHGRI's Division of Genomic Medicine, is a recipient of the Presidential's President's Rank Award for 2021, being only one of three such awardees this year from the NIH. Winners of this prestigious award are strong leaders, professionals and scientists who achieve results and consistently demonstrate strength, integrity, industry and a relentless commitment to excellence in public service. The Presidential Rank Award is the highest honor the federal government can bestow upon a career civilian employee. So congratulations Terry. In January of 2022, NHGRI concluded its successful bold predictions seminar series. And for each of the 10 bold predictions in the 2020 NHGRI strategic vision, we invited two speakers to join us and describe the area in greater detail and indicate what they thought would be necessary to make the prediction come true. On average, each with each seminar there were 378 virtual attendees from 25 countries and 25 audience questions were asked. We encourage everyone to view the recordings of these seminars on our genome TV channel of YouTube, which has averaged 2000 views so far with the number rising all the time. The telomere to telomere or T2T consortium is an open community based effort to generate the first truly complete human genome sequence. The consortium is a all in one effort that transcends traditional research boundaries with researchers actively participating from all parts of the genomics ecosystem, including both the intramural research program at NHGRI and also the extramural research program of NHGRI. The project reflects the genomics community's desire to have accurate and complete human genome sequences. Well, over the past year that T2T consortium completed its first human genome sequence called CHM13, which represents a substantial improvement to the reference human genome sequence that already existed. There's now significant discussion about how to implement CHM13 as a new reference sequence because of the obvious value of using a truly complete human genome sequence as a reference. Meanwhile, the T2T consortium is planning to complete additional diverse human genomes and to help the field transition to these improved references. Moving on then to some general NIH updates. In December, Francis Collins stepped down as NIH director. Francis was the longest serving presidentially appointed NIH director, having served for over 12 years under three U.S. presidents. His tenure as NIH director was truly remarkable. He proposed and established bold initiatives extending from fundamental basic science to translational science, tackling some of the most pressing health issues facing Americans, including Alzheimer's disease, cancer, opioid abuse, rare diseases, and COVID-19. Highlights include establishing the All of Us research program, the brain research through advancing innovative neurotechnologies or brain initiative, and the cancer moonshot initiative just to name a few. With this marks the end of an era for NIH, and with it comes association of Francis's full-time return to NHGRI. He is now a full-time senior investigator in the Center for Precision Health Research and head of the molecular genetic section within the NHGRI Intramural Research Program. NHGRI is delighted to have Francis rejoin the institute on a full-time basis, all the while recognizing he had really never had completely left his genome nest while serving as NIH director. Meanwhile, Larry Tabak, the NIH principal deputy director, is now serving as the NIH acting director. And meanwhile, we all await President Biden's naming of his nominee for the next NIH director. Now, as an aside, I thought I would share with you something I thought was interesting to watch as the news played out in October when Francis first announced his plans to step down as NIH director. Most news agencies got the story correct. And that includes Fox, it includes the Washington Post and stat news, and Politico, and Associated Press, and Nature. But then there was CNN, who created a bit of a stir due to their online coverage. Specifically, they reported that Dr. Francis Collins, that folksy guitar playing director of the National Institutes of Health is planning to step down Tuesday as head of the gigantic research agency and return to his previous job as the director of the National Human Genome Research Institute. The notion of Francis returning as NHGRI director, a position I might note is currently occupied, came as a complete surprise to NHGRI, who collectively let out a very large, what? But fortunately, everyone quickly came to learn that this was just CNN's version of fake news, and that they were going to be stuck with me as NHGRI director for the foreseeable future, and that's just the way it goes. But meanwhile, in early December and prior to Francis actually stepping down as NIH director, we were all honored to have President Joe Biden visit the NIH campus. The President gave a briefing on the importance of coronavirus vaccines and booster shots, and on the NIH's and on the White House's strategy for fighting COVID-19 over the winter. In other developments in December, William Riley retired as the NIH associate director for behavioral and social sciences research and director of the Office of Behavioral and Social Sciences Research, otherwise known as OBSSR. Bill had served in these roles for seven years, during which he worked to advance understanding the field to integrate OBSSR's efforts into many other biomedical research programs at NIH. OBSSR's deputy director, Christine Hunter, will serve as acting NIH associate director for behavioral and social science research and acting director of OBSSR until a permanent successor is named. Now, NIH has issued a request for information or RFI on proposed updates and long term considerations related to the NIH genomic data sharing policy. This RFI is soliciting input on a range of topics. And some of these topics are straightforward and common sense, such as aligning the genomic data sharing policy with the NIH data management and sharing policy, which takes effect in January 2023. But other of these topics are more complex. Such as the question of whether additional data elements that have been historically removed from genomic data sets should be shared through the NIH genomic data repositories and the opportunities and risks presented by employing privacy preserving record linkage. We hope that the genomics community, including genomic data generators, genomic data users and bioethics experts, will submit responses to this RFI by February 28, so as to fully inform future updates to the NIH genomic data sharing policy. Well, we are in February, but we are currently several months in, therefore, fiscal 2022. And we are operating under a continuing resolution or CR. Well, on February 18, the CR expires and government funding will run out unless appropriation bills are enacted or if another CR is passed. Now talks on spending levels have been held up in the Senate, which has not passed any appropriations bills as of this time. So the Senate Appropriations Committee majority members released their proposed fiscal year 2022 Labor HHS bill in October 2021 with the values shown here. Overall, they did not propose to maintain the 5% increase across the board for individual NIH institutes and centers that was actually proposed by the House. Instead, they are proposing NHGRI would be given a budget increase of about 3%. As a reminder, the House language designated that ARPA H would receive $3 billion of NIH's budget increase, but the legislative vehicle for the authorization of ARPA H remains unclear at this time. So moving on, we will talk about some general genomics updates. And unfortunately, I start this section of my director's report with multiple rounds of sad news. It has been a rough couple of months for the genetics and genomics communities. Her starters Debbie Nickerson passed away on December 24, 2021. She was a leading figure in applying genome sequencing to advance precision medicine and a strong and vocal advocate for the inclusion of diverse populations in genomics research. She was a professor of genome sciences at the University of Washington a long time grantee and advisor of NHGRI and a major positive force within the genomics community. Debbie played a significant role in major NHGRI projects, including the human genome project the international haplotype map or half map project. The electronic medical records and genomics network, we emerge network and the genomics research to elucidate the genetics of rare diseases or Gregor consortia. Her communications group put together a web feature that captures Debbie's legacy with NHGRI, which includes quotes from our staff and information about her outstanding work. And then genomics visionary Thomas Kasti passed away on January 14. His research contributions were truly instrumental to modern genetics. For over 30 years, he was a professor molecular and human genetics at Baylor College of Medicine, where he built a world class genetics and genomics program. His lifetime of research focused on the genetic basis of human diseases and their molecular diagnosis and his lab identifying the genetic basis of 25 inherited disorders. His research group was the first to describe triplet and tetramer repeats and DNA and discover the and discover the underlying mechanisms behind fragile X syndrome. He mentored over 90 emerging scientists and was also a physician with 25 years of patient care experience. And then world renowned human geneticist hate is Asian died on January 20. He was a professor of pediatrics and molecular biology and genetics at Johns Hopkins University School of Medicine, where his research group focused on the biology of wine one retro transposons and humans and mice. Early in his career, he made discoveries about the genetic basis of an array of hemoglobinopathy. An additional note, he was actually named as one of the first plaintiffs in the Supreme Court's 2013 ruling that companies cannot patent parts of naturally occurring human genes. It is clear he had a huge impact on human genetics and on hundreds of trainees, faculty members and colleagues. And finally, on January 21 Robert Murray passed away at the age of 90. Robert was a professor of pediatrics and genetics at Howard University. He served on the very first joint working group on LC, which actually occurred before NHG even established our own LC research program. It was shared by Nancy Wexler and participants included Jonathan Beckwith, Patricia King, Victor mucuzek, Tom Murray and Bob Murray. That group may be initial recommendations about many of the issues that would eventually be studied by NHG or ice LC research program. Well, moving beyond those sad updates, let me turn to some honors. And the American Society of Human Genetics or ASHG gave awards to four members of the genomics community at its 2021 annual meeting. Ironically, one of those included the late Thomas Caskey, who received the William Allen Award, which recognizes a scientist for substantial and far reaching scientific contributions to human genetics. Mr. Mattisakis received the Kurt Stern Award, which recognizes genetics and genomics researchers who have made significant contributions during the past decade. Wiley Burke received the mucuzek Award, which recognizes an individual who has exhibited exemplary leadership and vision and advancing the ASHG mission through the promotion and successful assimilation of genetics and genomics knowledge into the broader scientific community. And finally, Sharon Terry received the Advocacy Award, which recognizes those who exhibited excellence and achievement and applications of human genetics for the common good. In terms of other honors, the National Academy of Medicine recently announced the election of new members of particular relevance to the genomics community to NIH and or to NHGRI are the individuals listed here, one of which you'll be hearing from later in this open session. Similarly, an impressive set of genetics and genomics researchers and NHGRI colleagues were recently elected to be fellows in the American Association for the Advancement of Science, with their names listed here as well. And the Howard Hughes Medical Institute recently selected a set of new investigators, and the two individuals listed here have notable ties with genomics and with NHGRI. Congratulations to them. So with respect to ties to not only NHGRI, but ties to this advisory council, former council member Lon Cardin is the new president and chief executive officer of the Jackson Laboratory, succeeding Ed Lu in the position. And Lon, as many of you know, is an accomplished human geneticist and demonstrated leader in both pharma and biotech with strong computational background of his own. In his new leadership position at the Jackson Laboratory, he will undoubtedly continue to work to use genomics to improve human health. And now for some end of 2021 accolades. Although the science breakthrough of the year went to artificial intelligence powered protein structure prediction. There were two runners up of particular interest to the genomics community. They were ancient soil DNA sampling comes of age, and CRISPR fixes genes inside the body. While the scientists top 10 innovations of 2021 included two spatial genomics tools, two instruments for single cell analysis and a CRISPR based SNP chip. And then looking to the future. Nature recently named seven technologies that will likely have an impact on science in 2022. And remarkably, six of the seven are genetic genomic or use genomic data. Coming in at number one is the telomere to telomere consortium that I mentioned earlier, and all and fully finished genomes. We are truly plugging the spotlight in genomics, and I love every minute of it. Moving on to the NHGRI extramural research program. Our genome sequencing program as many of you know NHGRI genome sequencing program or GSP has been composed of the centers from indelian genomics or CMGs the centers for common disease genomics and GSP analysis centers. Well the program is wrapping up this year and working on final papers resources and analysis. As part of these final publications the CMGs have written a paper entitled centers from indelian genomics a decade of facilitating gene discovery that highlights key findings from the two phases of the program. The paper is currently impressed at genetics and medicine and available in that archive. The human genome reference program or HRP represents NHGRI's continued commitment to refining and maintaining the reference human genome sequence. The multi component program which is currently in its third year aims to generate at least 350 high quality reference human genome sequences. To generate them into a pan genome reference data from multiple DNA sequencing platforms for phase diploid genomes for 100 individuals have been released and are available in multiple repositories. Meanwhile the annual HRP meeting was held in November of 2021 and feature updates on population sampling and representation data production and assembly pan genome reference representations and outreach and improvement. The digital legal and social applications are LC component is now embedded in the program and multiple genome graph representation results look quite promising at this point. And additionally the program is accelerating efforts in international outreach via the global Alliance for genomics and health and also the human heredity and health human heredity and health in Africa program. As highlighted in the 2020 NHGRI strategic vision, the Institute recognizes that comparative genomics is an important tool for maximizing our understanding of genome function. Comparative genomics also provides an opportunity for partnership and cooperation with other communities working in this space. And therefore NHGRI has signed on to the National Science Foundation led enabling discovery through genomics or edge program. The multi agency initiative supports the development of innovative tools technologies resources and infrastructure that advanced biological research focused on the identification of the causal mechanisms connecting genes and phenotypes. As part of the new partnership NHGRI recently made three awards to the individuals listed here. The others will be part of the larger edge network and they joined the other awardees at the annual edge meeting or where they will join them. Or no they did join them because of that meeting was held in late January. And the next edge proposal due date is February 17 of this year. NHGRI technology development program promotes technological advancements enabling genomic discoveries and facilitating the adoption of genomics in medicine. The collaborative nucleic acid sequencing technology innovation and early development requests for applications has an upcoming due date of March 1, 2022. Meanwhile, the advanced genomic technology development meeting will be hosted this summer by the technology development coordinating center at the Jackson laboratory. The synthetic nucleic acid sequencing technology, genomic technology and synthetic nucleic acid technology grantees from the program will meet to communicate to collaborate and to interact. And prior to that closed grantee meeting there will also be a public session. By small business innovation research or SBIR and small business technology transfer or STTR programs continue to thrive. In total the Institute funded $16.5 million in small business grant effort in fiscal year 2021. These recent SBIR and STTR grants included 10 phase one proof of principle and 15 phase two pre commercialization awards. So there are six new phase two awards supporting work at five companies. Genomonon for their work to automate genome sequence variation interpretation from the medical literature, honeycomb biotechnologies to develop a single cell genomics device. To commercialize a multiomic low ultra low input kit eclipse bio innovations to provide tools for profiling mRNA and mRNA and micro RNA pairings. And a picklier for two awards. One to quantitatively map combinatorial histone modifications and another to develop efficient quantitative chromatin profiling the encyclopedia DNA elements or encode aims to identify and annotate all of the possible functional elements in the human and mouse genomes encode shares these annotations freely with the scientific community as the registry of candidate cis regulatory elements or C CREs and provides the screen web interface for exploring the registry and supporting data. Now the registry and screen have been developed and maintained by the encode data analysis center and recently version three of the registry was released more data from an expanded number of cell types have been used to identify elements. Now, in addition, screen now has an improved design with new features. There is now an embedded genome genome browser to view the elements and their genomic context displays of functional characterization data have been added. Versioning is easier to locate enhancing the reproducibility of the results and similarly, data download options are easier to find and to configure encode data have been at a broad and significant impact on the scientific community. We highlight three 2021 papers that provide new insights into the molecular and cellular functions of CCREs and how CCREs impact complex human diseases and traits. For example, being ran led the development of a single cell atlas of chromatin accessibility to delineate cell type specific fetal and an adult human CCREs in collaboration with several others Steve Riley led the development of a new asset to characterize the function of CCREs. And also in collaboration with several others Jesse Ingrance led the development of a model to predict enhancer gene interactions, which facilitates the connection of GWAS variants and regulatory regions to their target genes. Now in terms of newer consortium the, the impact of genomic variation on function or IGVF program is one of NHGRI is newest research efforts. IGVF goal is to develop a framework for systematically understanding the effects of genomic variation on genome function and how these effects shape phenotypes and health and disease. This includes sharing a resource of data and models with the scientific community to enable future studies on the impact of genomic variation on health and disease. The IGVF consortium held its kickoff meeting in November 2021, which started on the IGVF planning year going forward now during the meeting IGF researchers discussed specific goals for the program consortium coordination and barriers and challenges to the program success. The IGVF consortium also took some initial steps toward considering how to generate a broadly useful resource and how IGVF can interact with the broader community to facilitate this. There are two main outcomes expected for the first year of the IGVF program, first development of a unified experimental design for the consortium and second a vision for the IGVF resource in general. Now the developmental genotype tissue expression or DGTECS project launched in September of 2021 and aims to catalog and analyze transcriptional profiles from a wide variety of tissues from postmortem pediatric donors. This program is co-led by NHGRI and the Eunice Kennedy Shriver National Institute of Child Health and Human Development or NICHD. In addition, the National Institute of Neurological Disorders and Stroke and the National Institute of Mental Health are contributing funds towards genomic analyses of developmental brain tissues. The project consists of a biospecimen procurement center and laboratory and data analysis and coordinating center and these two centers are associated with three awards. The biospecimen procurement center was awarded to the National Disease Research Interchange to enroll pediatric donors and provide high quality tissue samples for analyses. And the laboratory data analysis and coordinating center was awarded to the Broad Institute and Yale University to process tissues for genome sequencing, analyze gene expression patterns, both in bulk tissues and single cells, and ensure that the data and samples are accessible to the research community. And with that a complimentary non-human primate GTECS effort will add to our understanding of the human specific and primate specific gene expression patterns and applications for that component will be reviewed in October of 2022. NHGRI Genomic Data Science Analysis Visualization Informatics Lab Space, which you've heard me mention a couple times referred to as ANVIL, is a federated cloud based infrastructure and software platform that provides an analysis and community environment for unrestricted and controlled access of genomic and phenotypic data sets. In the last October, NHGRI hosted a workshop entitled Future Directions of the NHGRI ANVIL and a summary of that workshop will be presented by Marilyn Richie later today. But in January a marker paper about the ANVIL program was published in Cell Genomics and was actually featured on the journal's cover as shown on the right. This work provides a high level overview of ANVIL's data sharing and analysis ecosystem and its approaches to improve interoperability with other NIH cloud based genomic data resources. The phenotypes and exposures toolkit or Phoenix is a catalog of consensus protocols for measuring phenotypes and exposures and biomedical research. The expert Phoenix working group recently identified well established measurement protocols relevant for sickle cell disease curative therapies. They recommended 13 protocols for inclusion in the toolkit, such as determination of liver iron concentration and pretransfusion antibody testing. These protocols were released last August as part of the expanding Phoenix sickle cell disease collections project, which is funded by the National Heart, London Blood Institute. The Phoenix team also created a new COVID-19 variable compare tool to assist investigators who are choosing from the 39 COVID related questionnaires in the Phoenix toolkit to add to their studies. Users can compare protocols by keyword side by side comparison of two questionnaires or heat map visualizations of similar variables among the set of questionnaires. And shown here on the right is a heat map comparing the all of us or AOU, COPE, the adolescent brain cognitive development or ABCD and the multi ethnic study of atherosclerosis or MESA COVID-19 questionnaires with a number of variables in each questionnaire on the main diagonal. As you can see the ALE and MESA have 120 variables in common, whereas ABCD and MESA have 14 variables in common. So an investigator might choose AOUs COPE or MESAs for a higher chance of harmonizing their data with another source. In July of 2020, the electronic medical records and genomics or a merged network, which consists of 10 clinical sites and a coordinating center launched a new phase. The network is conducting a nationwide prospective studies that is doing research aimed at expanding on best practices and knowledge and effective implementation of genomic medicine by understanding how genetics contributes to an individual's risk of developing a disease. The merged network has made significant progress since the start of the study and in its first year the network received single institutional review board approval for the research protocol that required extensive work to identify new ways to combine monogenic risk, clinical risk, polygenic risk and family history for 10 common diseases. And also to research ways to apply European ancestry divide derived polygenic risk scores or PRS's in diverse populations and establish an infrastructure to electronically capture from this 10 sites using red cap and the Anvil resources. Now enrollment for the 25,000 participant cohort is expected to begin in spring of 2022. The clinical sequencing evidence generating research or CSER program aims to generate evidence related to the clinical utility of genome sequencing with a major emphasis on participant diversity and engagement. Two recent CSER publications weren't highlighting. The first paper by Gutierrez at all included preliminary data from the CSER wide harmonized access to care measure. Among five CSER sites about 19% of CSER participants experienced barriers in access to care. Additional qualitative findings are reported that lend a more nuanced picture of significant barriers, as well as evaluation improvement strategies. For example, the conceptual diagram shows how genomic medicine could be accessed by via genome sequencing research or through healthcare more generally. Several CSER sites are conducting qualitative research through patient family and provider interviews to identify barriers in accessing follow up care. The second paper by Phillips at all interviewed a group of 12 payers to assess payer considerations for funding genome versus exome sequencing. Payers saw advantages to genome sequencing but wanted more proof in four categories. One demonstrating the merits of genome versus exome sequencing to enhancing methods for evidence generation. For example, by establishing clinical centers of excellence. Three, ensuring consistency among labs and for enhancing implementation and care delivery. The clinical genome resource or ClinGen evaluates and disseminates the clinical relevance of gene and genomic variants for use and precision medicine and research. This has been renewed for an additional five years at approximately $14.5 million per year with co-funded from the National Cancer Institute. The three principal investigator teams and their institutions are shown on the left. The overarching themes are to engage the relevant communities, including patients health care systems, scientific experts and genetics professionals, increase the scale impact of ClinGen tools and curation results, and expand diversity of ClinGen's curation workforce and the patient and population data used for curation. ClinGen has partnered with the Centers for Disease Control and Prevention's genetic testing reference materials program or GetRM to develop a publicly available list of expert curated clinically important genomic variants that provides a foundation for designing comprehensive validation studies and for creating in silica reference materials for clinical genomic test development and validation. The list of 2021, ClinGen and GetRM published their results in the journal Molecular Diagnostics. To assemble the expert curated variant list members from 36 of ClinGen's expert panels were asked to nominate clinically important variants, including SNPs, CNVs, difficult to sequence regions and complex rearrangements. 546 genomic variants in 84 genes were nominated, including 29 genes on the American College of Medical Genetics and Genomic Secondary Findings version 3.0 list. The nominated variants relate to a wide range of diseases, including heritable cancers, inborn areas of metabolism, cardiomyopathy, diabetes, and immune disorders. And ClinGen and GetRM will continue to solicit feedback from the community and update the list on a regular basis. Now the polygenic risk methods in diverse populations or primed consortium is developing methods and refining polygenic risk spores or PRSs to improve prediction of health and disease in diverse populations. Since the launch of Prime in June of 2021, a new study site was added to the consortium, led by Iftacar Kulo of the Mayo Clinic. The new site will focus on developing PRSs for coronary heart disease and its related risk factors among diverse ancestry groups. In October of 2021, primed investigators from the Broad Institute's Diabetes Polygenic Risk Scores in Multiple Ancestries or D-PRISM study site published a paper co-authored by Council Member Steve Rich about next steps for predicting diabetes risk in diverse populations. In the US, diabetes is most prevalent in African Americans and Latinx communities. However, current PRS models are not good predictors of risk for these populations because they are derived from European ancestry populations. The D-PRISM study will collaborate with other prime sites to apply methodologies that use multi-ancestry summary statistics. Ultimately, performance of these PRSs should improve and facilitate precision diabetes medicine for all individuals. And finally, updates and news from the network can be found on the new consortium website and by using the Twitter handle at PRS diversity. The International 100K cohort consortium, or IHCC, was established by NIH and Wellcome Trust to bring together large cohorts from around the world to study questions none of them could answer alone. In October, the IHCC data and infrastructure working group held a hands-on workshop on how to prepare and transfer cohort data into ATLAS, a public catalog of standardized IHCC cohorts dictionaries for federated discovery and data sharing. Participants learned how the IHCC cohort ATLAS browser fits into the IHCC strategy and the benefits for IHCC member cohorts to add their data to the platform. The workshop also provided practical training on how to prepare cohort metadata, for example, metadata harmonization. There were 25 people from six countries who attended the workshop, including individuals from two lower-middle income countries. The 2021 Q4 IHCC members workshop, newly named IHCC link, occurred in November. Participants were given the opportunity to engage with and establish meaningful connections with other IHCC members. The virtual workshop also provided a platform for members to identify collaborative opportunities and to share ideas with others with similar research interests and goals. The total number of actions across all users, including clicks, messages and posts was 106,610. The total number of social network actions were 132. The total number of unique users that is attendees were 68 from 16 countries, including five from lower-middle income countries. Now the ethical, legal and social implications are LC research programs support studies that anticipate, explore and address implications of genomics for individuals, families and communities. And one of the guiding principles in the 2020 NHGRI strategic vision is to consider the synergistic effects of genomics, environment and social influences on health outcomes. And so in January, NHGRI, the National Institute of Environmental Health Sciences, or NIEHS, convened experts from LC environmental science and genomics for a virtual two-day workshop to brainstorm about novel ethical, legal and social issues that will require attention as NIH expands gene environment interaction research. Some of the major takeaways from the workshop include the need to work directly with community partners throughout the research process, a focus on improving communication about complex findings and myriad downstream implications of gene environment interaction rework, the importance and new challenges of data sharing in these studies, and the value of incorporating hypotheses into gene environment interaction studies that account for the effects of social determinants on health, such as racism. And an essential element of NHGRI's mission is to support talented researchers early in their careers, clearing a path for them to drive innovation in genomics. To this end, NHGRI has released a funding opportunity announcement or RFA for supporting talented early career researchers in genomics. Independent genomics researchers with early stage investigator or ESI status may submit R01 applications in response to this RFA. The first receipt date for this program is March 4 of this year with additional receipt dates in February 2023 and 2024. So moving on then to the NIH common fund and other trans NIH efforts. The central goal of the NIH common fund human heredity and health in Africa or H3Africa program is to develop a sustainable and collaborative African genomics research enterprise. Now in its 10th and final year, H3Africa continues to make progress on its goal of publishing in international journals with over 600 publications to date. Investigators continue to contribute to the field of genomics as well as to their communities. Many H3Africa members are involved in public health responses related to COVID-19 contributing to prevention testing and treatment. Recently, for example, H3Africa members were involved in identifying the Omicron Ferry. H3Africa illustrated continued international engagement by holding their 18th consortium meeting in the fall of 2021 in conjunction with the African Society of Human Genetics and the Tanzanian Society for Human Genetics. Now as H3Africa enters its final year, investigators are fulfilling one of the initial goals of the program by obtaining funds from the other sources of available funding to continue their research. This includes a collaboration stemming from the H3Africa Cardiovascular Disease Working Group with this group recently receiving a center award for the NHGRI Polygenic Risk Methods in Diverse Populations or Prime Consortium. Additionally, many H3Africa investigators will be expanding their work as part of the new NIH Common Fund Global Health Program Partising Data Science for Health Discovery and Innovation in Africa or DSI Africa. Other H3Africa investigators have received awards from standard NIH funding opportunities as well as from other funding sources. And with this being the final year of the program, H3Africa investigators and working groups are also focused on publishing their results with many manuscripts being written that highlight the genomics results as well as H3Africa's impact on genomics and research capacity. And if the pandemic allows, the final consortium meeting will be held at the end of May 2022 in Nigeria. The 4D Nucleo or 4DN is an NIH Common Fund program whose goal is to study the organization of the nucleus in both space and time. In 2020, the program started its second phase with a focus on understanding the role of nuclear organization disease and biological processes such as gene expression. By the way, NHGRI is one of the co-leads of the 4DN second phase. A recent highlight from the program relates to an evaluation of different methods to map nuclear architecture, which led to recommendations to the scientific community on how different approaches excel at different scales. Another highlight provided due information on the general principle that one feature of nuclear architecture is that self-organizing structures form without membrane boundaries. Specifically, the fact that non-coding RNAs were found to organize distinct compartments. And finally, there are two 4DN papers reported how variation in cell types arises from a constant genome, and nuclear architecture was found to vary with cell type in the developmental setting. Moving on beyond the Common Fund, all of us research program aims to build a national research cohort of one million or more participants reflecting the diversity of the United States. The program has created a partnership with participants in order to advance precision medicine and to change healthcare for the benefit of all. And interestingly, all of us has made several exciting leadership appointments in recent months. For example, Karim Watson has joined all of us as the new Chief Engagement Officer. He will lead efforts to develop partnerships with participants, communities, researchers, and healthcare providers. Jeff Ginsburg, no stranger to this council, has joined all of us as the Chief Medical and Scientific Officer. Jeff has been a longtime NHGRI grantees, a former member of this council, and he's a founding member of the Genomic Medicine Working Group of this council. His responsibilities with all of us will include aided in the development program scientific vision and strategy, and also supervising the collection and curation of data to support a wide range of important scientific research. Finally, Holly Garriott is now the all of us Chief Cohort and Development Officer. In this role, she directs activities to recruit and retain diverse participants nationwide, including piloting novel and emerging technologies and partnerships to ensure that participants have broader access to participate in medical research. That's then the end of that area of my report, we move on to activities in the areas of communication policy and education. And NHGRI's website genome.gov now contains informed consent information with a new look, and also some refresh content. We have two new fact sheets which are presented in a Q&A format, one focus on describing the informed consent process, and the other describes why informed consent is required. Now, the formal informed consent resource is a long standing resource on genome.gov that is now easier to navigate and also now reflects the 2018 common rule. It contains the require elements of informed consent, special considerations for genomics research, and also a sample informed consent set of forms. And as a leader in genomics research NHGRI has established an investigational device exemption or IDE greenhouse, an educational web resource that aims to increase understanding of the FDA's regulation of investigational devices in the context of genomics research. Now, these pages contain the actual application documents for genomic studies that were either granted IDEs or deemed to pose non significant threats or risks. These materials are thus now available to investigators of interest as a reference. We hope that these refresh pages are useful to those wanting to learn about this process which really sits at the intersection of genomic technologies and the clinical realm. Now through 2021 the communications and public liaison branch was busy, creating dozens of new fact sheets on emerging topics that are connected and relevant to genomics. These fact sheets also have a completely new look and style aiming to make important to know content accessible to the general public. These fact sheets cover topics such as artificial intelligence and machine learning and genomics eugenics and scientific racism understanding the COVID-19 mRNA vaccines and genomics and diversity in the workplace with many others besides those shown on the slide. And then in October the communications and public liaison branch debuted the forefront of genomics, which is a new quarterly newsletter. Each quarter the newsletter will round up the latest news stories from NHGRI, connect readers to NHGRI and its community and bring readers the best stories from the world of genomics. This newsletter is intended to repurpose NHGRI's existing communications content and reach a bigger audience by bringing easier to digest genomic news and NHGRI updates to subscribers inboxes, as well as to drive more of them to our website Genome.gov. Then in December, the NHGRI history of genomics program hosted a symposium entitled the meeting of eugenics historical and present day discussions of eugenics and scientific racism. NHGRI historian Chris Donahue and Oxford Brooks Professor Marius Turda scholars and researchers presented a total of 11 sessions covering topics such as the history of sterilization, race and reproduction, disability, LGBTQIA individuals, genetic screening, social and behavioral genomics and legacies of slavery in the United States. It also described recent occurrences of eugenics and scientific racism while underscoring the persistence of scientific and structural racism in the United States. Speakers from the US Holocaust Memorial Museum and the American Museum of Natural History also presented on their own efforts surrounding these efforts. This event, which attracted over 1400 registered attendees served as the first activity by NHGRI on this topic, and the Institute's most attended public event in 2021. The symposium revealed a strong interest in further exploring this and similar topics in greater depth, and the history of genomics program plans to capitalize on the audience and institutional gains from the event, and plans are underway for future activities in the spring and summer of 2022. If you're interested, there are full video recordings from the symposium that can be viewed on our genome TV channel of YouTube. And then in conjunction with that event, the history of genomics program along with the communication and public liaison branch also developed two additional educational resources on the history of eugenics and scientific racism. First, the eugenics and scientific racism fact sheet and eugenics its origin and development timeline. Now the new fact sheet and timeline can be found under the educational resources section of genome.gov. The timeline provided an easily digestible but detailed overview of the history of eugenics and scientific racism with a specific focus on the United States, and how these histories continue to plague society and science today. Additional public educational resources and materials on these topics are being planned. The next member is Family Health History Month and to celebrate last November's Family Health History Month NHRI used a social media campaign to encourage people to talk to their families about their health histories, and to share the families sharing health assessment and risk evaluation or share workbook. In addition, the Unlocking Lives Code website featured a new family health history interactive resource that provided detailed information in an engaging format. The members of the Family Health History Group published a paper describing how to modernize family health history by identifying achievable strategies to reduce implementation gaps. NHRI's Inter-Society Coordinating Committee for Practitioner Education and Genomics, otherwise known as ISCC, ISCCPEG, facilitates student interactions with healthcare and educator professionals working in genomics education. And one activity of this program is to sponsor ISCC scholars, which facilitates their exposure to the broader genomics community and their interaction with experts in the field. Over their two-year term, scholars work on a genetics genomics related education projects as they do so under the mentorship of an ISCCPEG member. Shown here are the four new scholars selected in December who now join the four existing scholars in their second and final year of the program. By the way, in the fall of 2021, the Genome Unlocking Lives Code exhibition actually returned to the Smithsonian's National Museum of Natural History in Washington, D.C. Well, since much has changed since its opening in 2013, the exhibition has been updated and refreshed in a few ways to highlight new discoveries and technological advances. And in addition, the Genome Unlocking Lives Code website has been redesigned with a new modern look to highlight the exhibition and share genomic resources with educators, students, and the public. So if any of you are in the D.C. area between now and the summer, you should stop by the National Museum of Natural History and visit Genome Unlocking Lives Code exhibition. And with that, I will move to my final area for director's report, just a few updates about our intramural research program. First NHGRI was delighted to have John Carpton as a former trainee and a former faculty member. He was first a postdoctoral fellow and then a later a tenure track investigator in our intramural research program and he was recently named as chair of President Biden's National Cancer Advisory Board. And the board guides the director of the National Cancer Institute and setting the course for the National Cancer Research Program. John is currently professor and chair in the Department of Translational Genomics at the Tech School of Medicine at the University of Southern California. So congratulations to John, you make us proud. And in December, two intramural investigators in the social behavioral research branch, specifically Ben Spahnem and Larry Brody, along with colleagues from the National Library of Medicine and the National Center for Biotechnology Information, published a study on the use of the terms ancestry, ethnicity, and race. These terms as they were found in papers appearing in the American Journal of Human Genetics. And specifically they found that in the 70 year history of the American Journal of Human Genetics, the term ancestry and the term ethnicity have increased in use as population descriptors, while the term race has decreased. Although its overall use has declined, the odds of race appearing with ethnicity has increased relative to the odds of race appearing in the absence of ethnicity, which is interesting. Now science actually reported on the study in Science Insider and discuss the findings, providing a window to view the history of how racial terminology and racial thinking has been used in genomics and human genetics, and in publications related to genomics and genetics. And in recent months, I just wanted to point out there's been a number of very high profile news features about some of our intramural investigators at NHGRI. Dan Casner was profiled in Science Magazine for his work on sporadic fevers and inflammation. USA Today featured Cindy Tiff's work on an important gene therapy trial. And finally a recent cover of genetic engineering and biotechnology news featured Charles Rotimi and his work on the H3 Africa project. And we're proud of all these individuals. Well, at the end of my director's report, and I am at the end of my director's report, I always like to remind people how to keep in touch with me via my monthly newsletter, the genomics landscape and also more recently through Twitter. Recently, the communications team developed a more user friendly, a one stop shop for staying connected with me and with NHGRI. And in doing so, you can simply access this page shown at the URL at the top. And then if you scroll down past the picture of me. You come across these nine major resources associated with the Institute, which provides convenient navigation to accessing them. So for example, you can get to just genome.gov like clicking there. But relevant to what I typically tell you about you can get to my genomics landscapes and sign up for them through one window, or you could sign up to follow me on Twitter through another window and if you go down further you can access our strategic vision and elements of our strategic planning process as well as the Institute's brochure. Also very commonly visited places such as genome TV which I've mentioned several times, and some directly to our oral history collection. And then if you want to scroll down even further and if you're looking for other things you could find out a curated set of some recent talks of mine that the communication team wants to highlight, as well as some of my podcasts and recent op-eds. And we hope that you find this new one-stop shop helpful when you're trying to stay connected with me and with the Institute. And with that, I just want to finally give a personal thanks to the many NHGRI staff members who contributed the slides and associated materials that I just reviewed in this lengthy director's report. I wanted to tell you and a lot of work went into getting it ready. As always, such a group effort is needed to get a director's report together effectively. An additional thanks to the NHGRI communications group and web team for creating the electronic resource and associated with directors report. And then as always, I'd like to give a special thanks to Chris Watterstrand who's my ringleader for getting the director's report document and PowerPoint together. She can be found on each of these two recent Zoom meeting screenshots, but she asked that you don't look at her, but rather that you look for the yellow boxes because you'll see Ken Nakamura in a yellow box on the left and Lisa Brooks in a yellow box on the right. And Ken and Lisa both announced their retirements previously, but we only recently had official Zoom send-offs and these are each of the parties for them where they are saying goodbye to the Institute at their exit celebration with the rest of the staff. And with that, I will stop. I thank you for your attention. And I'm happy to take any questions. Thank you very much. Okay, well, lots to digest there, Eric. Thank you for that.