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.

作者： Stephanie A,Felker ^[1] ; James M J,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 C E,Hurst ^[5] ; Salman,Rashid ^[5] ; Melissa A,Kelly ^[6] ; Ghunwa,Nakouzi ^[6] ; Laura G,Hendon ^[7] ; E Martina,Bebin ^[8] ; Eimear E,Kenny ^[9] ; Gregory M,Cooper ^[10]

作者单位： HudsonAlpha Institute for Biotechnology, Huntsville, AL. ^[1] Washington University School of Medicine, St. Louis, MO. ^[2] Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY. ^[3] Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY. ^[4] University of Alabama in Birmingham, Birmingham, AL. ^[5] HudsonAlpha Clinical Services Lab, Huntsville, AL. ^[6] University of Mississippi Medical Center, Jackson, MS. ^[7] Department of Neurology, University of Alabama at Birmingham, Birmingham, AL. ^[8] Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY. ^[9] HudsonAlpha Institute for Biotechnology, Huntsville, AL. Electronic address: gcooper@hudsonalpha.org. ^[10]

关键词 Alternative splicing Neurodevelopmental disorders Nonsense-mediated decay Poison exon Voltage-gated sodium channels