Annotating pathogenic non-coding variants in genic regions.

Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi; Ren, Zhong; La Carpia, Francesca; Halvorsen, Matt; Schoch, Kelly; Ratzon, Fanni; Heinzen, Erin L; Boland, Michael J; Petrovski, Slavé; Goldstein, David B

Gelfman, Sahar; Wang, Quanli; McSweeney, K Melodi; Ren, Zhong; La Carpia, Francesca; Halvorsen, Matt; Schoch, Kelly; Ratzon, Fanni; Heinzen, Erin L; Boland, Michael J; Petrovski, Slavé; Goldstein, David B.

Afiliação

Gelfman S; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA. sahar.gelfman@columbia.edu.
Wang Q; Department of Genetics and Development, Columbia University Medical Center, New York, New York, 10032, USA. sahar.gelfman@columbia.edu.
McSweeney KM; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA.
Ren Z; Department of Genetics and Development, Columbia University Medical Center, New York, New York, 10032, USA.
La Carpia F; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA.
Halvorsen M; Department of Genetics and Development, Columbia University Medical Center, New York, New York, 10032, USA.
Schoch K; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA.
Ratzon F; Department of Genetics and Development, Columbia University Medical Center, New York, New York, 10032, USA.
Heinzen EL; Department of Pathology and Cell Biology, Columbia University Medical Center, New York, New York, 10032, USA.
Boland MJ; Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA.
Petrovski S; Department of Genetics and Development, Columbia University Medical Center, New York, New York, 10032, USA.
Goldstein DB; Department of Pediatrics, Duke University Health System, Durham, North Carolina, 27705, USA.

Nat Commun ; 8(1): 236, 2017 08 09.

Article em En | MEDLINE | ID: mdl-28794409

Assuntos

Epilepsia/genética; Bases de Dados Genéticas; Exoma; Frequência do Gene; Variação Genética; Humanos; Íntrons; Anotação de Sequência Molecular

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido

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