Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples

High-throughput sequencing using pooled DNA samples can facilitate genome-wide studies on rare and low-frequency variants in a large population. Some major questions concerning the pooling sequencing strategy are whether rare and low-frequency variants can be detected reliably, and whether estimated...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Wang, Jingwen, Skoog, Tiina, Einarsdottir, Elisabet, Kaartokallio, Tea, Laivuori, Hannele, Grauers, Anna, Gerdhem, Paul, Hytönen, Marjo, Lohi, Hannes, Kere, Juha, Jiao, Hong
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5025741/
https://ncbi.nlm.nih.gov/pubmed/27633116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33256
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