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Paper Details

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
medRxiv
0
2023
CNV, CNVs, Copy number variants, Exome, exomes, rare genetic disease, rare genetic diseases
Author NameAffiliation
Moriel Singer-BerkBroad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Moriel Singer-BerkCenter for Genomic Medicine, Massachusetts General Hospital
Moriel Singer-BerkBroad Institute of MIT and Harvard
Eleina EnglandBroad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Eleina EnglandBroad Institute of MIT and Harvard
Monica H WojcikBroad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Monica H WojcikBroad Institute of MIT and Harvard
Monica H WojcikBoston Children's Hospital
Monica H WojcikHarvard Medical School
Kiran GarimellaBroad Institute of MIT and Harvard
Christopher A WalshBroad Institute of MIT and Harvard
Christopher A WalshHoward Hughes Medical Institute, Boston Children's Hospital
Christopher A WalshHarvard Medical School
Christopher A WalshBoston Children's Hospital
Christopher A WalshBroad Institute of MIT and Harvard
Christopher A WalshBoston Children's Hospital
Christopher A WalshHarvard Medical School
Christopher A WalshHoward Hughes Medical Institute, Boston Children's Hospital
Elliott H SherrUniversity of California san francisco
Elliott H SherrInstitute of Human Genetics and Weill Institute for Neurosciences, University of California san francisco
Casie A GenettiBoston Children's Hospital
Casie A GenettiThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Alan H BeggsBroad Institute of MIT and Harvard
Alan H BeggsBoston Children's Hospital
Alan H BeggsHarvard Medical School
Alan H BeggsThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Pankaj B AgrawalBroad Institute of MIT and Harvard
Pankaj B AgrawalBoston Children's Hospital
Pankaj B AgrawalHarvard Medical School
Pankaj B AgrawalThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Zornitza StarkUniversity of Melbourne
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute
Martin R PollakHarvard Medical School
Martin R PollakBeth Israel Deaconess Medical Center
Daniel G MacArthurBroad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Daniel G MacArthurMurdoch Children's Research Institute
Daniel G MacArthurGarvan Institute
Daniel G MacArthurBroad Institute of MIT and Harvard
Daniel G MacArthurBroad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Daniel G MacArthurBroad Institute of MIT and Harvard
Daniel G MacArthurGarvan Institute
Daniel G MacArthurMurdoch Children's Research Institute
Anne O'Donnell-LuriaBroad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaHarvard Medical School
Anne O'Donnell-Luria
Anne O'Donnell-LuriaBroad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Anne O'Donnell-LuriaBroad Institute of MIT and Harvard
Anne O'Donnell-LuriaBoston Children's Hospital
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