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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. ....

Danielle Ellis , Zheng Li , Justin Zook , Chen Shan Chin , National Institute Of Standards , Genomic Technology , Human Pangenome Reference Consortium , Harvard Medical School , Pangenome Research , Dana Farber Cancer Institute , Genomic Sciences Group , Nature Methods , Pangenome Research Tool Kit , Vice President , Shan Chin , Study Lead Author , Associate Professor , Harvard Medical , National Institute ,

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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Justin Zook , Zheng Li , Chen Shan Chin , Harvard Medical School , Genomic Technology , Genomic Sciences Group , National Institute Of Standards , Pangenome Research , Human Pangenome Reference Consortium , Dana Farber Cancer Institute , Nature Methods , Pangenome Research Tool Kit , Vice President , Associate Professor , Harvard Medical , National Institute ,