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Paper Details

Inferring compound heterozygosity from large-scale exome sequencing data.
Nat Genet
2
2024
Mendelian conditions, Recessive diseases, chromosome, coding variants, compound heterozygous variants, gene, genes, patient, patients, rare variant pairs, recessive disease
Author NameAffiliation
Nicholas A WattsBroad Institute of MIT and Harvard
Nicholas A WattsMassachusetts General Hospital
Moriel Singer-BerkBroad Institute of MIT and Harvard
Grace TiaoBroad Institute of MIT and Harvard
Grace TiaoMassachusetts General Hospital
Joel N HirschhornBroad Institute of MIT and Harvard
Joel N HirschhornCenter for Basic and Translational Obesity Research, Boston Children's Hospital
Joel N HirschhornBoston Children's Hospital
Joel N HirschhornHarvard Medical School
Joel N HirschhornBroad Institute of MIT and Harvard
Joel N HirschhornHarvard Medical School
Joel N HirschhornBoston Children's Hospital
Joel N HirschhornCenter for Basic and Translational Obesity Research, Boston Children's Hospital
Mark J DalyBroad Institute of MIT and Harvard
Mark J DalyInstitute for Molecular Medicine Finland (FIMM)
Mark J DalyMassachusetts General Hospital
Mark J DalyBroad Institute of MIT and Harvard
Mark J DalyMassachusetts General Hospital
Mark J DalyInstitute for Molecular Medicine Finland (FIMM)
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard
Anne O'Donnell-LuriaCenter for Genomic Medicine, Massachusetts General Hospital
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaMassachusetts General Hospital
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard
Anne O'Donnell-LuriaMassachusetts General Hospital
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaCenter for Genomic Medicine, Massachusetts General Hospital
Konrad J KarczewskiBroad Institute of MIT and Harvard
Konrad J KarczewskiCenter for Genomic Medicine, Massachusetts General Hospital
Konrad J KarczewskiThe Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard
Konrad J KarczewskiMassachusetts General Hospital
Konrad J KarczewskiBroad Institute of MIT and Harvard
Konrad J KarczewskiMassachusetts General Hospital
Konrad J KarczewskiThe Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard
Konrad J KarczewskiCenter for Genomic Medicine, Massachusetts General Hospital
Daniel G MacArthurBroad Institute of MIT and Harvard
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurGarvan Institute of Medical Research and UNSW Sydney
Daniel G MacArthurMurdoch Children's Research Institute
Daniel G MacArthurBroad Institute of MIT and Harvard
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurGarvan Institute of Medical Research and UNSW Sydney
Daniel G MacArthurMurdoch Children's Research Institute
Kaitlin E SamochaBroad Institute of MIT and Harvard
Kaitlin E SamochaMassachusetts General Hospital
Kaitlin E SamochaCenter for Genomic Medicine, Massachusetts General Hospital
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