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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Vydáno v:Genet Epidemiol
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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On-line přístup: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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