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Variant interpretation using population databases: Lessons from gnomAD.
Gudmundsson, Sanna; Singer-Berk, Moriel; Watts, Nicholas A; Phu, William; Goodrich, Julia K; Solomonson, Matthew; Rehm, Heidi L; MacArthur, Daniel G; O'Donnell-Luria, Anne.
Affiliation
  • Gudmundsson S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Singer-Berk M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Watts NA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Phu W; 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.
  • Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • MacArthur DG; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • O'Donnell-Luria A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Hum Mutat ; 43(8): 1012-1030, 2022 08.
Article in En | MEDLINE | ID: mdl-34859531

Full text: 1 Database: MEDLINE Main subject: Software / Rare Diseases Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States

Full text: 1 Database: MEDLINE Main subject: Software / Rare Diseases Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States