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

@article{Wang2016InvestigationOR,
  title={Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples},
  author={Jingwen Wang and Tiina Skoog and Elisabet Einarsdottir and Tea Kaartokallio and Hannele Laivuori and Anna Grauers and Paul Gerdhem and Marjo K. Hyt{\"o}nen and Hannes Lohi and Juha Kere and Hong Jiao},
  journal={Scientific Reports},
  year={2016},
  volume={6}
}
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 this study, we evaluated MAF estimates using three variant detection tools with two… 
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