Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate.

ABSTRACT:

Background

Identification of deleterious genetic variants using DNA sequencing data relies on increasingly detailed filtering strategies to isolate the small subset of variants that are more likely to underlie a disease phenotype. Datasets reflecting population allele frequencies of different types of variants serve as powerful filtering tools, especially in the context of rare disease analysis. While such population-scale allele frequency datasets now exist for structural variants (SVs), it remains a challenge to match SV calls between multiple datasets, thereby complicating estimates of a putative SV's population allele frequency.

Results

We introduce SVAFotate, a software tool that enables the annotation of SVs with variant allele frequency and related information from ex

SUBMITTER: Nicholas TJ 

PROVIDER: S-EPMC9670370 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature