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Inferring compound heterozygosity from large-scale exome sequencing data.
Guo, Michael H; Francioli, Laurent C; Stenton, Sarah L; Goodrich, Julia K; Watts, Nicholas A; Singer-Berk, Moriel; Groopman, Emily; Darnowsky, Philip W; Solomonson, Matthew; Baxter, Samantha; Tiao, Grace; Neale, Benjamin M; Hirschhorn, Joel N; Rehm, Heidi L; Daly, Mark J; O'Donnell-Luria, Anne; Karczewski, Konrad J; MacArthur, Daniel G; Samocha, Kaitlin E.
Afiliación
  • Guo MH; Department of Neurology, Hospital of the University of the Pennsylvania, Philadelphia, PA, USA.
  • Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Goodrich JK; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Singer-Berk M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Darnowsky PW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Solomonson M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Baxter S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Hirschhorn JN; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • O'Donnell-Luria A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Samocha KE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nat Genet ; 56(1): 152-161, 2024 Jan.
Article en En | MEDLINE | ID: mdl-38057443
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Exoma Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos