Ontology highlight
ABSTRACT:
SUBMITTER: Park MH
PROVIDER: S-EPMC3906084 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Park Mi-Hyun MH Rhee Hwanseok H Park Jung Hoon JH Woo Hae-Mi HM Choi Byung-Ok BO Kim Bo-Young BY Chung Ki Wha KW Cho Yoo-Bok YB Kim Hyung Jin HJ Jung Ji-Won JW Koo Soo Kyung SK
PloS one 20140129 1
Next-generation sequencing (NGS) has enabled the high-throughput discovery of germline and somatic mutations. However, NGS-based variant detection is still prone to errors, resulting in inaccurate variant calls. Here, we categorized the variants detected by NGS according to total read depth (TD) and SNP quality (SNPQ), and performed Sanger sequencing with 348 selected non-synonymous single nucleotide variants (SNVs) for validation. Using the SAMtools and GATK algorithms, the validation rate was ...[more]