Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

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第一作者： Stephanie A,Felker

第一单位： HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806.

作者： Stephanie A,Felker ^[1] ; James Mj,Lawlor ^[1] ; Susan M,Hiatt ^[1] ; Michelle L,Thompson ^[1] ; Donald R,Latner ^[1] ; Candice R,Finnila ^[1] ; Kevin M,Bowling ^[2] ; Zachary T,Bonnstetter ^[1] ; Katherine E,Bonini ^[3] ; Nicole R,Kelly ^[4] ; Whitley V,Kelley ^[1] ; Anna Ce,Hurst ^[5] ; Melissa A,Kelly ^[6] ; Ghunwa,Nakouzi ^[6] ; Laura G,Hendon ^[7] ; E Martina,Bebin ^[8] ; Eimear E,Kenny ^[9] ; Gregory M,Cooper ^[1]

作者单位： HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806. ^[1] Washington University School of Medicine, Saint Louis, MO, USA 63110. ^[2] Institute for Genomic Health, Icahn School of Medicine at Mount Sinai. New York, NY, USA 10029. ^[3] Department of Pediatrics, Division of Pediatric Genetic Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY, USA 10467. ^[4] University of Alabama in Birmingham, Birmingham, AL, USA 35294. ^[5] HudsonAlpha Clinical Services Lab, Huntsville, AL, USA. ^[6] University of Mississippi Medical Center, Jackson, MS, 39216. ^[7] Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA 35294. ^[8] Institute for Genomic Health, Icahn School of Medicine at Mount Sinai. New York, NY, USA 10029.;Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA 10029.;Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA 10029. ^[9]

DOI 10.1101/2023.01.12.523654

PMID 36711854

发布时间 2024-09-12

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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.

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