Analysis of DNA Sequence Variants Detected by High Throughput Sequencing

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 p...

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Bibliografiska uppgifter
Huvudupphovsmän: Adams, David R, Sincan, Murat, Fajardo, Karin Fuentes, Mullikin, James C, Pierson, Tyler M, Toro, Camilo, Boerkoel, Cornelius F, Tifft, Cynthia J, Gahl, William A, Markello, Tom C
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2012
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3959770/
https://ncbi.nlm.nih.gov/pubmed/22290882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22035
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