Analysis of DNA sequence variants detected by high-throughput sequencing.

@article{Adams2012AnalysisOD,
  title={Analysis of DNA sequence variants detected by high-throughput sequencing.},
  author={David R Adams and Murat Sincan and Karin V. Fuentes Fajardo and James C. Mullikin and T M Pierson and C Toro and Cornelius F. Boerkoel and Cynthia J Tifft and William A Gahl and Tom C Markello},
  journal={Human mutation},
  year={2012},
  volume={33 4},
  pages={
          599-608
        }
}
The Undiagnosed Diseases Program at the National Institutes of Health uses high-throughput sequencing (HTS) to diagnose rare and novel diseases. HTS techniques generate large numbers of DNA sequence variants, which must be analyzed and filtered to find candidates for disease causation. Despite the publication of an increasing number of successful exome-based projects, there has been little formal discussion of the analytic steps applied to HTS variant lists. We present the results of our… CONTINUE READING
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