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Selecting variant masks to improve power and replicability of gene-level burden tests.

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Title: Selecting variant masks to improve power and replicability of gene-level burden tests.
Authors: Nguyen T; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Koesterer R; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Jurgens SJ; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Dornbos P; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Regeneron Genetics Center, Tarrytown, New York, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Yoshiji S; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada.; Canada Excellence Research Chair in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine, McGill University, Montréal, Québec, Canada.; Kyoto-McGill International Collaborative Program in Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Llamas A; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Jang D; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Smadbeck P; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Moriondo A; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hoang Q; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ruebenacker O; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ellinor P; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Precision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA., Burtt N; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Flannick J; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Source: Research square [Res Sq] 2025 Apr 15. Date of Electronic Publication: 2025 Apr 15.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Nguyen+T%22">Nguyen T</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Koesterer+R%22">Koesterer R</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Jurgens+SJ%22">Jurgens SJ</searchLink>; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Heart Failure and Arrhythmias, Amsterdam UMC location University of Amsterdam, Amsterdam, The Netherlands.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Dornbos+P%22">Dornbos P</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Regeneron Genetics Center, Tarrytown, New York, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Yoshiji+S%22">Yoshiji S</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Québec, Canada.; Canada Excellence Research Chair in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine, McGill University, Montréal, Québec, Canada.; Kyoto-McGill International Collaborative Program in Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.<br /><searchLink fieldCode="AU" term="%22Llamas+A%22">Llamas A</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Jang+D%22">Jang D</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Smadbeck+P%22">Smadbeck P</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Moriondo+A%22">Moriondo A</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hoang+Q%22">Hoang Q</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ruebenacker+O%22">Ruebenacker O</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ellinor+P%22">Ellinor P</searchLink>; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Precision Cardiology Laboratory, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiology Division, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Burtt+N%22">Burtt N</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Flannick+J%22">Flannick J</searchLink>; Program in Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Program in Metabolism, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
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