Article
Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples.
Scientific reports - 16 Sept 2016
Wang Jingwen, Skoog Tiina, Einarsdottir Elisabet, Kaartokallio Tea, Laivuori Hannele, Grauers Anna, Gerdhem Paul, Hytönen Marjo, Lohi Hannes, Kere Juha, Jiao Hong
Abstract excerpt
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 minor allele frequencies (MAFs) can represent the actual values obtained from individually genotyped samples. In...
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