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Widespread naturally variable human exons aid genetic interpretation.

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Title: Widespread naturally variable human exons aid genetic interpretation.
Authors: Jacobs HN; MIT Department of Biology, Cambridge, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Gorissen BL; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Guez J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Kanai M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Gupta K; Computer Science and Artificial Intelligence Laborratory, MIT Cambridge, Massachusetts, USA., Finucane HK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Burge CB; MIT Department of Biology, Cambridge, Massachusetts, USA. cburge@mit.edu.
Source: Nature communications [Nat Commun] 2025 Dec 16; Vol. 16 (1), pp. 11345. Date of Electronic Publication: 2025 Dec 16.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Jacobs+HN%22">Jacobs HN</searchLink>; MIT Department of Biology, Cambridge, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Gorissen+BL%22">Gorissen BL</searchLink>; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Guez+J%22">Guez J</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Kanai+M%22">Kanai M</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Gupta+K%22">Gupta K</searchLink>; Computer Science and Artificial Intelligence Laborratory, MIT Cambridge, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Finucane+HK%22">Finucane HK</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Karczewski+KJ%22">Karczewski KJ</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Burge+CB%22">Burge CB</searchLink>; MIT Department of Biology, Cambridge, Massachusetts, USA. cburge@mit.edu.
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              Text: 2025 Dec 16
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