Gene-based Segregation Method for Identifying Rare Variants in Family-based Sequencing Studies

Whole-exome sequencing using family data has identified rare coding variants in Mendelian diseases or complex diseases with Mendelian subtypes, using filters based on variant novelty, functionality, and segregation with the phenotype within families. However, formal statistical approaches are limite...

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Detalhes bibliográficos
Publicado no:Genet Epidemiol
Main Authors: Qiao, Dandi, Lange, Christoph, Laird, Nan M., Won, Sungho, Hersh, Craig P., Morrow, Jarrett, Hobbs, Brian D., Lutz, Sharon M., Ruczinski, Ingo, Beaty, Terri H., Silverman, Edwin K., Cho, Michael H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5397337/
https://ncbi.nlm.nih.gov/pubmed/28191685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/gepi.22037
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