Performance of somatic structural variant calling in lung cancer using Oxford Nanopore sequencing technology.

ABSTRACT:

Background

Lung cancer is a heterogeneous disease and the primary cause of cancer-related mortality worldwide. Somatic mutations, including large structural variants, are important biomarkers in lung cancer for selecting targeted therapy. Genomic studies in lung cancer have been conducted using short-read sequencing. Emerging long-read sequencing technologies are a promising alternative to study somatic structural variants, however there is no current consensus on how to process data and call somatic events. In this study, we preformed whole genome sequencing of lung cancer and matched non-tumour samples using long and short read sequencing to comprehensively benchmark three sequence aligners and seven structural variant callers comprised of generic callers (SVIM, Sniffles2, DELLY

SUBMITTER: Liu L 

PROVIDER: S-EPMC11441263 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature