Article
Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.
PloS one - 1 Jan 2014
Park Mi-Hyun, Rhee Hwanseok, Park Jung Hoon, Woo Hae-Mi, Choi Byung-Ok, Kim Bo-Young, Chung Ki Wha, Cho Yoo-Bok, Kim Hyung Jin, Jung Ji-Won, Koo Soo Kyung
Abstract excerpt
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...
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