Rare penetrant mutations confer severe risk of common diseases.
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| Title: | Rare penetrant mutations confer severe risk of common diseases. |
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| Authors: | Fiziev PP; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., McRae J; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Ulirsch JC; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Dron JS; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Hamp T; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Yang Y; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Wainschtein P; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.; Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia., Ni Z; Department of Statistics, University of Wisconsin-Madison, Madison, WI 53706, USA., Schraiber JG; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Gao H; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Cable D; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology (MIT), Cambridge, MA 02142, USA., Field Y; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Aguet F; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Fasnacht M; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Metwally A; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA., Rogers J; Human Genome Sequencing Center and Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Wisconsin National Primate Research Center, University of Wisconsin-Madison, Madison, WI 53715, USA., Marques-Bonet T; Institute of Evolutionary Biology (UPF-CSIC), 08003 Barcelona, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), 08003 Barcelona, Spain.; Institut Català de Paleontologia Miquel Crusafont, Universitat Autònoma de Barcelona, 08193 Barcelona, Spain., Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Khera AV; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Verve Therapeutics, Cambridge, MA 02215, USA., Farh KK; Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA. |
| Source: | Science (New York, N.Y.) [Science] 2023 Jun 02; Vol. 380 (6648), pp. eabo1131. Date of Electronic Publication: 2023 Jun 02. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1095-9203 |
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| DOI: | 10.1126/science.abo1131 |
