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Rare variant discovery and calling by sequencing pooled samples with overlaps

Motivation: For many complex traits/diseases, it is believed that rare variants account for some of the missing heritability that cannot be explained by common variants. Sequencing a large number of samples through DNA pooling is a cost-effective strategy to discover rare variants and to investigate...

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Detalhes bibliográficos
Main Authors: Wang, Wenhui, Yin, Xiaolin, Soo Pyon, Yoon, Hayes, Matthew, Li, Jing
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3530907/
https://ncbi.nlm.nih.gov/pubmed/23104896
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bts645
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