Finding easy regions for short-read variant calling from pangenome data.

Abstract excerpt

BACKGROUND: While benchmarks on short-read variant calling suggest a low error rate below 0.5%, they are only applicable to predefined confident regions. For a human sample without such regions, the error rate could be 10 times higher. Although multiple sets of easy regions have been identified to alleviate the issue, they fail to consider nonreference samples or are biased toward existing short-read data or...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Variation
• Share to Computational Biology
• Share to Genome, Human