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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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Bibliografske podrobnosti
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: 2012
Teme:
Online dostop: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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