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Empirically determined baseline masking strategies and other considerations for gene-level burden tests.

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Title: Empirically determined baseline masking strategies and other considerations for gene-level burden tests.
Authors: Nguyen T; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Cardiomyopathy and Arrhythmia, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands., Koesterer R; Programs in Metabolism and 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., Haydarlou P; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Cardiomyopathy and Arrhythmia, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands., Dornbos P; Programs in Metabolism and 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.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Regeneron Genetics Center, Tarrytown, NY, USA., Yoshiji S; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Quebec, Canada.; Canada Excellence Research Chair in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine, McGill University, Montréal, Quebec, Canada.; Kyoto-McGill International Collaborative Program in Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan., Llamas A; Programs in Metabolism and 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; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Smadbeck P; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Moriondo A; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hoang Q; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ruebenacker O; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bezzina CR; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Cardiomyopathy and Arrhythmia, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands., Ellinor P; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; 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., Jurgens SJ; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Cardiomyopathy and Arrhythmia, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands.; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Burtt NP; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Flannick J; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. flannick@broadinstitute.org.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. flannick@broadinstitute.org.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. flannick@broadinstitute.org.
Source: Nature genetics [Nat Genet] 2026 Jun; Vol. 58 (6), pp. 1226-1236. Date of Electronic Publication: 2026 May 08.
Publication Type: Journal Article; Systematic Review
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Nguyen+T%22">Nguyen T</searchLink>; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Cardiomyopathy and Arrhythmia, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Koesterer+R%22">Koesterer R</searchLink>; Programs in Metabolism and 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="%22Haydarlou+P%22">Haydarlou P</searchLink>; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Cardiomyopathy and Arrhythmia, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Dornbos+P%22">Dornbos P</searchLink>; Programs in Metabolism and 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.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Regeneron Genetics Center, Tarrytown, NY, USA.<br /><searchLink fieldCode="AU" term="%22Yoshiji+S%22">Yoshiji S</searchLink>; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Human Genetics, McGill University, Montréal, Quebec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Quebec, Canada.; Canada Excellence Research Chair in Genomic Medicine, Victor Phillip Dahdaleh Institute of Genomic Medicine, McGill University, Montréal, Quebec, 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>; Programs in Metabolism and 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>; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Smadbeck+P%22">Smadbeck P</searchLink>; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Moriondo+A%22">Moriondo A</searchLink>; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Hoang+Q%22">Hoang Q</searchLink>; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ruebenacker+O%22">Ruebenacker O</searchLink>; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bezzina+CR%22">Bezzina CR</searchLink>; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Cardiomyopathy and Arrhythmia, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ellinor+P%22">Ellinor P</searchLink>; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; 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="%22Jurgens+SJ%22">Jurgens SJ</searchLink>; Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam Cardiovascular Sciences, Cardiomyopathy and Arrhythmia, Amsterdam UMC, location University of Amsterdam, Amsterdam, The Netherlands.; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Burtt+NP%22">Burtt NP</searchLink>; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Flannick+J%22">Flannick J</searchLink>; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. flannick@broadinstitute.org.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. flannick@broadinstitute.org.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. flannick@broadinstitute.org.
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  Data: <searchLink fieldCode="JN" term="%229216904%22">Nature genetics</searchLink> [Nat Genet] 2026 Jun; Vol. 58 (6), pp. 1226-1236. <i>Date of Electronic Publication: </i>2026 May 08.
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