Widespread naturally variable human exons aid genetic interpretation.
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| Title: | Widespread naturally variable human exons aid genetic interpretation. |
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| 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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