SomatoSim: precision simulation of somatic single nucleotide variants.

ABSTRACT:

Background

Somatic single nucleotide variants have gained increased attention because of their role in cancer development and the widespread use of high-throughput sequencing techniques. The necessity to accurately identify these variants in sequencing data has led to a proliferation of somatic variant calling tools. Additionally, the use of simulated data to assess the performance of these tools has become common practice, as there is no gold standard dataset for benchmarking performance. However, many existing somatic variant simulation tools are limited because they rely on generating entirely synthetic reads derived from a reference genome or because they do not allow for the precise customizability that would enable a more focused understanding of single nucleotide variant cal

SUBMITTER: Hawari MA 

PROVIDER: S-EPMC7936459 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature