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Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
Horton, Carolyn; Cass, Ashley; Conner, Blair R; Hoang, Lily; Zimmermann, Heather; Abualkheir, Nelly; Burks, David; Qian, Dajun; Molparia, Bhuvan; Vuong, Huy; LaDuca, Holly; Grzybowski, Jessica; Durda, Kate; Pilarski, Robert; Profato, Jessica; Clayback, Katherine; Mahoney, Martin; Schroeder, Courtney; Torres-Martinez, Wilfredo; Elliott, Aaron; Chao, Elizabeth C; Karam, Rachid.
Afiliação
  • Horton C; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Cass A; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Conner BR; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Hoang L; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Zimmermann H; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Abualkheir N; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Burks D; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Qian D; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Molparia B; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Vuong H; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • LaDuca H; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Grzybowski J; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Durda K; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Pilarski R; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Profato J; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Clayback K; Roswell Park Comprehensive Cancer Center, 665 Elm St, Buffalo, NY, 14203, USA.
  • Mahoney M; Roswell Park Comprehensive Cancer Center, 665 Elm St, Buffalo, NY, 14203, USA.
  • Schroeder C; Indiana University School of Medicine, 975 W. Walnut Street, IB 130, Indianapolis, IN, 46202, USA.
  • Torres-Martinez W; Indiana University School of Medicine, 975 W. Walnut Street, IB 130, Indianapolis, IN, 46202, USA.
  • Elliott A; Realm IDx. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Chao EC; Ambry Genetics. One Enterprise, Aliso Viejo, CA, 92656, USA.
  • Karam R; University of California, Irvine, School of Medicine, 1001 Health Sciences Rd, Irvine, CA, 92617, USA.
NPJ Genom Med ; 7(1): 49, 2022 Aug 25.
Article em En | MEDLINE | ID: mdl-36008414
ABSTRACT
DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. Here we address the limitations of splicing variant identification and interpretation by pairing DNA and RNA sequencing and describe the mutational and splicing landscape in a clinical cohort of 43,524 individuals undergoing genetic testing for hereditary cancer predisposition.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article