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Rare variant detection using family-based sequencing analysis

Next-generation sequencing is revolutionizing genomic analysis, but this analysis can be compromised by high rates of missing true variants. To develop a robust statistical method capable of identifying variants that would otherwise not be called, we conducted sequence data simulations and both whol...

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Autores principales: Peng, Gang, Fan, Yu, Palculict, Timothy B., Shen, Peidong, Ruteshouser, E. Cristy, Chi, Aung-Kyaw, Davis, Ronald W., Huff, Vicki, Scharfe, Curt, Wang, Wenyi
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 2013
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3593912/
https://ncbi.nlm.nih.gov/pubmed/23426633
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1222158110
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