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Novel Computational tool helps analyze complex genetic regions

GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today published a paper in Nature Methods, titled "Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes," in which researchers developed a new computational tool, the PanGenome Research-Tool Kit (PGR-TK), for scalable analysis of clinically relevant genes that were previously too complex to analyze.

GeneDx Announces New Tool to Help Harness Human Pangenome Diversity for Clinical Interpretation of Variants

26.06.2023 - New paper published today in Nature Methods describes the PanGenome Research-Tool Kit for analyzing complex regions of the human pangenome Recently released human pangenome better represents landscape of diverse human populations STAMFORD, Conn., .

New tool to help harness human pangenome diversity for clinical interpretation of variants

New tool to help harness human pangenome diversity for clinical interpretation of variants
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First Complete Human Genome Poised to Strengthen Genetic Analysis, NIST Study Shows

First Complete Human Genome Poised to Strengthen Genetic Analysis, NIST Study Shows
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New Benchmark Could Improve Detection of Genetic Variants Linked to Spinal Muscular Atrophy, Other Diseases

New Benchmark Could Improve Detection of Genetic Variants Linked to Spinal Muscular Atrophy, Other Diseases
nist.gov - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from nist.gov Daily Mail and Mail on Sunday newspapers.

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