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A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families

Family samples, which can be enriched for rare causal variants by focusing on families with multiple extreme individuals and which facilitate detection of de novo mutation events, provide an attractive resource for next-generation sequencing studies. Here, we describe, implement, and evaluate a like...

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Detalhes bibliográficos
Main Authors: Li, Bingshan, Chen, Wei, Zhan, Xiaowei, Busonero, Fabio, Sanna, Serena, Sidore, Carlo, Cucca, Francesco, Kang, Hyun M., Abecasis, Gonçalo R.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3464213/
https://ncbi.nlm.nih.gov/pubmed/23055937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002944
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