The human gene damage index as a gene-level approach to prioritizing exome variants

Proceedings of the National Academy of Sciences of the United States of America

Volumn 112, Issue 44, 2015, Pages 13615-13620

  Itan, Yuval ^a   Shang, Lei ^a   Boisson, Bertrand ^a   Patin, Etienne ^b,c   Bolze, Alexandre ^a   Moncada Vélez, Marcela ^a,d   Scott, Eric ^e   Ciancanelli, Michael J ^a   Lafaille, Fabien G ^a   Markle, Janet G ^a   Martinez Barricarte, Ruben ^a   De Jong, Sarah Jill ^a   Kong, Xiao Fei ^a   Nitschke, Patrick ^f   Belkadi, Aziz ^g,h   Bustamante, Jacinta ^a,g,h   Puel, Anne ^g,h   Boisson Dupuis, Stéphanie ^a,g,h   Stenson, Peter D ⁱ   Gleeson, Joseph G ^a,j,k   Cooper, David N ⁱ   Quintana Murci, Lluis ^b,c   Claverie, Jean Michel ^l   Zhang, Shen Ying ^a,g,h   Abel, Laurent ^a,g,h   Casanova, Jean Laurent ^a,g,h,l   more..

^a ROCKEFELLER UNIVERSITY   (United States)

^b INSTITUT PASTEUR   (France)

^c CNRS   (France)

^d UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h IMAGINE INSTITUTE   (France)

ⁱ CARDIFF UNIVERSITY   (United Kingdom)

^j NEW YORK GENOME CENTER   (United States)

^k HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^l CNRS Aix Marseille University   (France)

more..

Author keywords

Gene prioritization; Gene level; Mutational damage; Next generation sequencing; Variant prioritization

Indexed keywords

ARTICLE; CONTROLLED STUDY; EXOME; GENE DAMAGE INDEX; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC DAMAGE; GENETIC PARAMETERS; GENETIC VARIABILITY; HUMAN; MONOGENIC DISORDER; PARALOGY; POPULATION GENETICS; PRIORITY JOURNAL; GENETIC DISORDER; GENETICS; RECEIVER OPERATING CHARACTERISTIC;

EXOME; GENETIC DISEASES, INBORN; HUMANS; ROC CURVE;

EID: 84946595515     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1518646112     Document Type: Article

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