Ontology highlight
ABSTRACT:
SUBMITTER: Adams DR
PROVIDER: S-EPMC3959770 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Human mutation 20120228 4
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 experie ...[more]