Enhancing interpretation of clinical disease-associated copy number variations from multiple sequencing strategies with CNVSeeker.

ABSTRACT:

Motivation

DNA copy number variations (CNVs) exert a profound impact on major genetic disorders in humans. Although multiple sequencing technologies have become the first line of molecular diagnosis for CNVs, existing tools are unable to resolve the pathogenicity of CNVs directly from raw sequencing data.

Results

We developed CNVSeeker, a one-stop and easy-to-use pipeline that provides comprehensive analysis from raw sequencing data to variant interpretation reports, and supports multiple types of sequencing data including short-read data such as whole genome sequencing data and whole exome sequencing data, and long-read sequencing data from Pacific Biosciences HiFi platform or Oxford Nanopore Technologies platform. Through extensive benchmarking, CNVSeeker demonstrated comp

SUBMITTER: Xiang X 

PROVIDER: S-EPMC12918764 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature