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Paper Details

Using high-resolution variant frequencies to empower clinical genome interpretation.
Genet Med
283
2017
Mendelian disease, Mendelian disorder, cardiomyopathy, exome, human
Author NameAffiliation
Eric Vallabh MinikelMassachusetts General Hospital
Eric Vallabh MinikelBroad Institute of MIT &Harvard
Roddy WalshNational Heart and Lung Institute, Imperial College London
Roddy WalshNIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton &Harefield Hospitals &Imperial College London
Anne O'Donnell-LuriaMassachusetts General Hospital
Anne O'Donnell-LuriaBroad Institute of MIT &Harvard
Anne O'Donnell-LuriaMassachusetts General Hospital
Anne O'Donnell-LuriaBroad Institute of MIT &Harvard
Konrad J KarczewskiMassachusetts General Hospital
Konrad J KarczewskiBroad Institute of MIT &Harvard
Konrad J KarczewskiMassachusetts General Hospital
Konrad J KarczewskiBroad Institute of MIT &Harvard
Paul J R BartonNational Heart and Lung Institute, Imperial College London
Paul J R BartonNIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton &Harefield Hospitals &Imperial College London
Birgit Funke
Birgit FunkeMassachusetts General Hospital and Harvard Medical School
Birgit Funke
Birgit FunkeMassachusetts General Hospital and Harvard Medical School
Stuart A CookNational Heart and Lung Institute, Imperial College London
Stuart A CookDuke-National University of Singapore
Stuart A Cook
Stuart A CookNIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton &Harefield Hospitals &Imperial College London
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurBroad Institute of MIT &Harvard
Daniel G MacArthurHarvard Medical School
Daniel G MacArthurMassachusetts General Hospital
Daniel G MacArthurBroad Institute of MIT &Harvard
Daniel G MacArthurHarvard Medical School
James S WareNational Heart and Lung Institute, Imperial College London
James S WareNIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton &Harefield Hospitals &Imperial College London
James S WareBroad Institute of MIT &Harvard
James S WareMRC London Institute of Medical Sciences, Imperial College London
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Datasets

Dataset
Description
Source Link
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Exome Aggregation Consortium61,486 unrelated exomesLink
Release 1.2