High-throughput discovery of rare insertions and deletions in large cohorts.

  title={High-throughput discovery of rare insertions and deletions in large cohorts.},
  author={Francesco L. M. Vallania and Todd E Druley and Enrique Ramos and Jue Wang and Ingrid B. Borecki and Michael Province and Robi David Mitra},
  journal={Genome research},
  volume={20 12},
Pooled-DNA sequencing strategies enable fast, accurate, and cost-effect detection of rare variants, but current approaches are not able to accurately identify short insertions and deletions (indels), despite their pivotal role in genetic disease. Furthermore, the sensitivity and specificity of these methods depend on arbitrary, user-selected significance thresholds, whose optimal values change from experiment to experiment. Here, we present a combined experimental and computational strategy… CONTINUE READING

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