Ontology highlight
ABSTRACT:
SUBMITTER: Flaherty P
PROVIDER: S-EPMC3245950 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Flaherty Patrick P Natsoulis Georges G Muralidharan Omkar O Winters Mark M Buenrostro Jason J Bell John J Brown Sheldon S Holodniy Mark M Zhang Nancy N Ji Hanlee P HP
Nucleic acids research 20111019 1
With next-generation DNA sequencing technologies, one can interrogate a specific genomic region of interest at very high depth of coverage and identify less prevalent, rare mutations in heterogeneous clinical samples. However, the mutation detection levels are limited by the error rate of the sequencing technology as well as by the availability of variant-calling algorithms with high statistical power and low false positive rates. We demonstrate that we can robustly detect mutations at 0.1% frac ...[more]