Origins and characterization of variants shared between databases of somatic and germline human mutations.

ABSTRACT:

Background

Mutations arise in the human genome in two major settings: the germline and the soma. These settings involve different inheritance patterns, time scales, chromatin structures, and environmental exposures, all of which impact the resulting distribution of substitutions. Nonetheless, many of the same single nucleotide variants (SNVs) are shared between germline and somatic mutation databases, such as between the gnomAD database of 120,000 germline exomes and the TCGA database of 10,000 somatic exomes. Here, we sought to explain this overlap.

Results

After strict filtering to exclude common germline polymorphisms and sites with poor coverage or mappability, we found 336,987 variants shared between the somatic and germline databases. A uniform statistical model explai

SUBMITTER: Meyerson W 

PROVIDER: S-EPMC7273669 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature