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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2012
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| Materias: | |
| 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 |