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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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Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2012
Aiheet:
Linkit: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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