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Integrating 730,947 exome sequences with clinical literature improves gene discovery.

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Title: Integrating 730,947 exome sequences with clinical literature improves gene discovery.
Authors: Guez J; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Goodrich JK; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Moldovan MA; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Chao KR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kar P; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA., Panchal R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wilson MW; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rohlicek G; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Biba D; Department of Quantitative Biology, Cold Spring Harbor Laboratories, Cold Spring Harbor, NY, USA., Marten D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., He Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Darnowsky PW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Grant R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Baxter SM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Nadeau J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lu W; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Jahl S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Parsa S; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard-MIT Health Science Technology, Boston, MA, USA., Lamane A; Harvard-MIT Health Science Technology, Boston, MA, USA.; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA., DiTroia S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Fu J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Zhao X; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Alarmani E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Tolonen C; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Novod S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bryant S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Stevens C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chapman SB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Cusick C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Vittal C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Gauthier LD; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Goldstein JI; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Goldstein D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., King D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Poterba T; 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., Tranchero M; Department of ManagementManagement, University of Pennsylvania, Philadelphia, PA, USA., Lotter W; Department of Data Science, Dana-Farber Cancer Institute, Boston, MA, USA., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Seplyarskiy V; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Brigham and Women's Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA., Koch E; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Brigham and Women's Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Neale BM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Donnell-Luria A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Finucane HK; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sunyaev SR; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Brigham and Women's Hospital, Division of Genetics, Harvard Medical School, Boston, MA, USA., Daly MJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Samocha KE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Karczewski KJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Corporate Authors: gnomAD Project Consortium
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Mar 25. Date of Electronic Publication: 2026 Mar 25.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41929314
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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  Data: Integrating 730,947 exome sequences with clinical literature improves gene discovery.
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        Value: 10.64898/2026.03.23.26349081
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            NameFull: Seplyarskiy V
      – PersonEntity:
          Name:
            NameFull: Koch E
      – PersonEntity:
          Name:
            NameFull: Talkowski ME
      – PersonEntity:
          Name:
            NameFull: Solomonson M
      – PersonEntity:
          Name:
            NameFull: Neale BM
      – PersonEntity:
          Name:
            NameFull: O'Donnell-Luria A
      – PersonEntity:
          Name:
            NameFull: Finucane HK
      – PersonEntity:
          Name:
            NameFull: Sunyaev SR
      – PersonEntity:
          Name:
            NameFull: Daly MJ
      – PersonEntity:
          Name:
            NameFull: Rehm HL
      – PersonEntity:
          Name:
            NameFull: Samocha KE
      – PersonEntity:
          Name:
            NameFull: Karczewski KJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 25
              M: 03
              Text: 2026 Mar 25
              Type: published
              Y: 2026
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1