SECNVs: A Simulator of Copy Number Variants and Whole-Exome Sequences From Reference Genomes.

ABSTRACT: Copy number variants are duplications and deletions of the genome that play an important role in phenotypic changes and human disease. Many software applications have been developed to detect copy number variants using either whole-genome sequencing or whole-exome sequencing data. However, there is poor agreement in the results from these applications. Simulated datasets containing copy number variants allow comprehensive comparisons of the operating characteristics of existing and novel copy number variant detection methods. Several software applications have been developed to simulate copy number variants and other structural variants in whole-genome sequencing data. However, none of the applications reliably simulate copy number variants in whole-exome sequencing data. We have developed

SUBMITTER: Xing Y 

PROVIDER: S-EPMC7046838 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature