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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
medicalxpress.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from medicalxpress.com Daily Mail and Mail on Sunday newspapers.

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 ,

First Complete Human Genome Poised to Strengthen Genetic Analysis, NIST Study Shows

First Complete Human Genome Poised to Strengthen Genetic Analysis, NIST Study Shows
miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.

United States , Alaina Shumate , Skylar Martin , Justin Zook , Nathand Olson , Samantha Zarate , Stephaniem Yan , Mitchellr Vollger , Nancyf Hansen , Chunlin Xiao , Jennifer Mcdaniel , Melanie Kirsche , Michaeleg Sauria , Michaelc Schatz , Joyce Lee , Pavel Avdeyev , Kishwar Shafin , Chen Shan Chin , Justinm Zook , Karenh Miga , Sergey Koren , Jeffreya Rosenfeld , Fritzj Sedlazeck , Sergey Aganezov , Dannye Miller , Dylanj Taylor ,

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.

Aaronm Wenger , Alaina Shumate , Haoyu Cheng , Justin Zook , Nathand Olson , Marktw Ebbert , Zheng Li , Waynee Clarke , Chunlin Xiao , Byunggil Yoo , Jesse Farek , Jennifer Mcdaniel , Yiming Zhu , Uday Shanker Evani , Joyce Lee , Williamj Rowell , Chen Shan Chin , Sayed Mohammad Ebrahim Sahraeian , Christophere Mason , Lindsay Harris , Justinm Zook , Ziadm Khan , Karenh Miga , Medhat Mahmoud , Fritzj Sedlazeck , Carlos Flores ,