Ontology highlight
ABSTRACT:
SUBMITTER: Luan MW
PROVIDER: S-EPMC7075250 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Luan Mei-Wei MW Zhang Xiao-Ming XM Zhu Zi-Bin ZB Chen Ying Y Xie Shang-Qian SQ
Frontiers in genetics 20200309
Structural variation (SV) represents a major form of genetic variations that contribute to polymorphic variations, human diseases, and phenotypes in many organisms. Long-read sequencing has been successfully used to identify novel and complex SVs. However, comparison of SV detection tools for long-read sequencing datasets has not been reported. Therefore, we developed an analysis workflow that combined two alignment tools (NGMLR and minimap2) and five callers (Sniffles, Picky, smartie-sv, PBHone ...[more]