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Published on Feb 3, 2016
As Precision Medicine is taking off, the number of samples in a testing lab and the associated data volume is increasing exponentially. In order to organize the data and build a knowledge base of cases that can be used for future analysis as well as ongoing research, labs need to leverage state of the art warehousing technology.
Building on the algorithms and high-performance storage technology powering the VarSeq® software, we introduce VSWarehouse: a scalable, multi-project warehouse for NGS variant call sets, clinical reports and catalogs of variant assessments.
When interpreting variants for a NGS test, a clinical lab must be able to efficiently ask:
Have I ever seen this variant in my previous test samples? At what frequency? (How many heterozygous and homozygous genotypes?) Have I put this variant into a clinical report for any previous samples? What notes have I take about this variant? What has changed in public databases like ClinVar since I last assessed this variant? These questions can be answered by an integrated variant warehousing solution that never throws away any data from sample VCFs or their genomic annotations, even as new samples and updated annotations are added.
Furthermore, a single repository of clinical samples allows for retrospective cohort research studies as well as systematic alerting for changes in public annotations that warrant review of previously reported decisions.
Please join us to learn about how Golden Helix is tackling this important component to any testing lab’s infrastructure and hear about a special offer for early adopters.