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Functional dissection of complex trait variants at single-nucleotide resolution.

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Title: Functional dissection of complex trait variants at single-nucleotide resolution.
Authors: Siraj L; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Program in Biophysics, Harvard Graduate School of Arts and Sciences, Boston, MA, USA.; Harvard-Massachusetts Institute of Technology MD/PhD Program, Harvard Medical School, Boston, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Castro RI; The Jackson Laboratory, Bar Harbor, ME, USA., Dewey HB; The Jackson Laboratory, Bar Harbor, ME, USA.; Graduate School of Biomedical Sciences, Tufts University School of Medicine, Boston, MA, USA., Kales S; The Jackson Laboratory, Bar Harbor, ME, USA., Butts JC; The Jackson Laboratory, Bar Harbor, ME, USA.; Graduate School of Biomedical Sciences and Engineering, University of Maine, Orono, ME, USA., Nguyen TTL; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Kanai M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Center for Computational and Integrative Biology, Massachusetts General Hospital, Boston, MA, USA., Berenzy D; The Jackson Laboratory, Bar Harbor, ME, USA., Mouri K; The Jackson Laboratory, Bar Harbor, ME, USA., Wang QS; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Genome Informatics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan., Fiziev PP; Illumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA., Tsuo K; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA., McCaw ZR; Insitro, South San Francisco, CA, USA., Gosai SJ; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Aguet F; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Illumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA., Cui R; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA.; The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kassam I; Illumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA., McRae J; Illumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA., Vockley CM; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Eli Lilly and Company, Boston, MA, USA., Lareau CA; Program in Computational and Systems Biology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Abramov S; Altius Institute for Biomedical Sciences, Seattle, WA, USA., Boystov A; Altius Institute for Biomedical Sciences, Seattle, WA, USA., Vierstra J; Altius Institute for Biomedical Sciences, Seattle, WA, USA., Okada Y; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Genome Informatics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Gusev A; Harvard Medical School and Dana-Farber Cancer Institute, Boston, MA, USA., Jones TR; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lander ES; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Biology, MIT, Cambridge, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA., Sabeti PC; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Finucane HK; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. finucane@broadinstitute.org.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. finucane@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA. finucane@broadinstitute.org., Reilly SK; Department of Genetics, Yale School of Medicine, New Haven, CT, USA. steven.k.reilly@yale.edu.; Wu Tsai Institute, Yale University, New Haven, CT, USA. steven.k.reilly@yale.edu., Ulirsch JC; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. julirsch@illumina.com.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. julirsch@illumina.com.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA. julirsch@illumina.com.; Illumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA. julirsch@illumina.com.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA. julirsch@illumina.com., Tewhey R; The Jackson Laboratory, Bar Harbor, ME, USA. Ryan.Tewhey@jax.org.; Graduate School of Biomedical Sciences, Tufts University School of Medicine, Boston, MA, USA. Ryan.Tewhey@jax.org.; Graduate School of Biomedical Sciences and Engineering, University of Maine, Orono, ME, USA. Ryan.Tewhey@jax.org.
Source: Nature [Nature] 2026 Feb 25. Date of Electronic Publication: 2026 Feb 25.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE
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  Data: Functional dissection of complex trait variants at single-nucleotide resolution.
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  Data: <searchLink fieldCode="AU" term="%22Siraj+L%22">Siraj L</searchLink>; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Program in Biophysics, Harvard Graduate School of Arts and Sciences, Boston, MA, USA.; Harvard-Massachusetts Institute of Technology MD/PhD Program, Harvard Medical School, Boston, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Castro+RI%22">Castro RI</searchLink>; The Jackson Laboratory, Bar Harbor, ME, USA.<br /><searchLink fieldCode="AU" term="%22Dewey+HB%22">Dewey HB</searchLink>; The Jackson Laboratory, Bar Harbor, ME, USA.; Graduate School of Biomedical Sciences, Tufts University School of Medicine, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Kales+S%22">Kales S</searchLink>; The Jackson Laboratory, Bar Harbor, ME, USA.<br /><searchLink fieldCode="AU" term="%22Butts+JC%22">Butts JC</searchLink>; The Jackson Laboratory, Bar Harbor, ME, USA.; 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Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Genome Informatics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.<br /><searchLink fieldCode="AU" term="%22Gusev+A%22">Gusev A</searchLink>; Harvard Medical School and Dana-Farber Cancer Institute, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Jones+TR%22">Jones TR</searchLink>; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lander+ES%22">Lander ES</searchLink>; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Biology, MIT, Cambridge, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sabeti+PC%22">Sabeti PC</searchLink>; Broad Institute of Harvard and MIT, Cambridge, MA, USA.; Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.<br /><searchLink fieldCode="AU" term="%22Finucane+HK%22">Finucane HK</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. finucane@broadinstitute.org.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. finucane@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA. finucane@broadinstitute.org.<br /><searchLink fieldCode="AU" term="%22Reilly+SK%22">Reilly SK</searchLink>; Department of Genetics, Yale School of Medicine, New Haven, CT, USA. steven.k.reilly@yale.edu.; Wu Tsai Institute, Yale University, New Haven, CT, USA. steven.k.reilly@yale.edu.<br /><searchLink fieldCode="AU" term="%22Ulirsch+JC%22">Ulirsch JC</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. julirsch@illumina.com.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA. julirsch@illumina.com.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA, USA. julirsch@illumina.com.; Illumina Artificial Intelligence Laboratory, Illumina, San Diego, CA, USA. julirsch@illumina.com.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, USA. julirsch@illumina.com.<br /><searchLink fieldCode="AU" term="%22Tewhey+R%22">Tewhey R</searchLink>; The Jackson Laboratory, Bar Harbor, ME, USA. 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