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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky