Accelerated somatic mutation calling for whole-genome and whole-exome sequencing data from heterogenous tumor samples.
Shuangxi JiTong ZhuAnkit SethiaWenyi WangPublished in: Genome research (2024)
Accurate detection of somatic mutations in DNA sequencing data is a fundamental prerequisite for cancer research. Previous analytical challenges were overcome by consensus mutation calling from four to five popular callers. This, however, increases the already nontrivial computing time from individual callers. Here, we launch MuSE 2, powered by multistep parallelization and efficient memory allocation, to resolve the computing time bottleneck. MuSE 2 speeds up 50 times more than MuSE 1 and eight to 80 times more than other popular callers. Our benchmark study suggests combining MuSE 2 and the recently accelerated Strelka2 achieves high efficiency and accuracy in analyzing large cancer genomic data sets.
Keyphrases
- high efficiency
- electronic health record
- papillary thyroid
- big data
- copy number
- squamous cell
- squamous cell carcinoma
- single cell
- high resolution
- working memory
- single molecule
- gene expression
- dna methylation
- childhood cancer
- clinical practice
- circulating tumor
- young adults
- real time pcr
- cell free
- loop mediated isothermal amplification