VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data.

ABSTRACT:

Background

Copy number variation (CNV) is a class of genomic Structural Variation (SV) that underlie genomic disorders and can have profound implications for health. Short-read genome sequencing (sr-GS) enables CNV calling for genomic intervals of variable size and across multiple phenotypes. However, unresolved challenges include an overwhelming number of false-positive calls due to systematic biases from non-uniform read coverage and collapsed calls resulting from the abundance of paralogous segments and repetitive elements in the human genome.

Methods

To address these interpretative challenges, we developed VizCNV. The VizCNV computational tool for inspecting CNV calls uses various data signal sources from sr-GS data, including read depth, phased B-allele frequency, as we

SUBMITTER: Du H 

PROVIDER: S-EPMC11565771 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature