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...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Bingshan, Chen, Wei, Zhan, Xiaowei, Busonero, Fabio, Sanna, Serena, Sidore, Carlo, Cucca, Francesco, Kang, Hyun M., Abecasis, Gonçalo R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464213/
https://www.ncbi.nlm.nih.gov/pubmed/23055937
http://dx.doi.org/10.1371/journal.pgen.1002944

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464213/
https://www.ncbi.nlm.nih.gov/pubmed/23055937
http://dx.doi.org/10.1371/journal.pgen.1002944

Ejemplares similares