Measuring, visualizing, and diagnosing reference bias with biastools

Abstract Many bioinformatics methods seek to reduce reference bias, but no methods exist to comprehensively measure it. Biastools analyzes and categorizes instances of reference bias. It works in various scenarios: when the donor’s variants are known and reads are simulated; when donor variants are...

Full description

Bibliographic Details
Main Authors: Mao-Jan Lin, Sheila Iyer, Nae-Chyun Chen, Ben Langmead
Format: Article
Language:English
Published: BMC 2024-04-01
Series:Genome Biology
Subjects:
Online Access:https://doi.org/10.1186/s13059-024-03240-8