The Human Gene Damage Index as a Gene-level Approach to Prioritizing Exome Variants

ABSTRACT: The protein-coding exome of a patient with a monogenic disease contains about 20,000 variants, only one or two of which are disease causing. We found that 58% of rare variants in the protein-coding exome of the general population are located in only 2% of the genes. Prompted by this observ...

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Autores:

Itan, Yuval
Shang, Lei
Bertrand, Boisson
Patin, Etienne
Bolze, Alexandre
Moncada Vélez, Marcela
Scott, Eric
Ciancanelli, Michael
Lafaille, Fabien
Markle, Janet
Martinez Barricarte, Ruben
Jill de Jong, Sarah
Fei Kong, Xiao
Nitschke, Patrick
Belkadi, Aziz
Bustamante, Jacinta
Puel, Anne
Boisson-Dupuis, Stéphanie
Stenson, Peter D.
Gleeson, Joseph G.
Cooper, David N.
Quintana Murci, Lluis
Claverie, Jean Michel
Zhang, Shen Ying
Abel, Laurent
Casanova, Jean-Laurent

Tipo de recurso:

Article of investigation

Fecha de publicación:

2015

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/34974

Acceso en línea:

https://hdl.handle.net/10495/34974

Palabra clave:

Exome
Exoma
Mutation
Mutación
DNA Damage
Daño del ADN

Rights

openAccess

License

https://creativecommons.org/licenses/by-nc-nd/4.0/