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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Felker, Stephanie A; Lawlor, James Mj; Hiatt, Susan M; Thompson, Michelle L; Latner, Donald R; Finnila, Candice R; Bowling, Kevin M; Bonnstetter, Zachary T; Bonini, Katherine E; Kelly, Nicole R; Kelley, Whitley V; Hurst, Anna Ce; Kelly, Melissa A; Nakouzi, Ghunwa; Hendon, Laura G; Bebin, E Martina; Kenny, Eimear E; Cooper, Gregory M.
Afiliação
  • Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806.
  • Lawlor JM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806.
  • Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806.
  • Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806.
  • Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806.
  • Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806.
  • Bowling KM; Washington University School of Medicine, Saint Louis, MO, USA 63110.
  • Bonnstetter ZT; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806.
  • Bonini KE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai. New York, NY, USA 10029.
  • Kelly NR; 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.
  • Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA 35806.
  • Hurst AC; University of Alabama in Birmingham, Birmingham, AL, USA 35294.
  • Kelly MA; HudsonAlpha Clinical Services Lab, Huntsville, AL, USA.
  • Nakouzi G; HudsonAlpha Clinical Services Lab, Huntsville, AL, USA.
  • Hendon LG; University of Mississippi Medical Center, Jackson, MS, 39216.
  • Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA 35294.
  • Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai. New York, NY, USA 10029.
  • Cooper GM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA 10029.
bioRxiv ; 2023 Jan 13.
Article em En | MEDLINE | ID: mdl-36711854
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article