Benchmarking datasets for assembly-based variant calling using high-fidelity long reads.

ABSTRACT:

Background

Recent advances in long-read sequencing technologies have enabled accurate identification of all genetic variants in individuals or cells; this procedure is known as variant calling. However, benchmarking studies on variant calling using different long-read sequencing technologies are still lacking.

Results

We used two Caenorhabditis elegans strains to measure several variant calling metrics. These two strains shared true-positive genetic variants that were introduced during strain generation. In addition, both strains contained common and distinguishable variants induced by DNA damage, possibly leading to false-positive estimation. We obtained accurate and noisy long reads from both strains using high-fidelity (HiFi) and continuous long-read (CLR) sequencing plat

SUBMITTER: Lee H 

PROVIDER: S-EPMC10045170 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature