Benchmarking within-sample minority variant detection with short-read sequencing in <i>M. tuberculosis</i>

Our analysis provides evidence to support best practices for low-frequency variant calling, including tool choice, masking and filtering. We also develop and provide a new error model that excludes false positive low-frequency variant calls from FreeBayes output.

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Publication Details

Journal
bioRxiv (Cold Spring Harbor Laboratory)
Published
2026-02-16
DOI
https://doi.org/10.64898/2026.02.13.704885
Primary Topic
Tuberculosis Research and Epidemiology
Type
article
Field-Weighted Citation Impact
0.00
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article

Benchmarking within-sample minority variant detection with short-read sequencing in M. tuberculosis

Shandukani Mulaudzi, Sanjana G. Kulkarni, María C. Marín, Maha R Farhat
bioRxiv (Cold Spring Harbor Laboratory)
Tuberculosis Research and Epidemiology
article

Benchmarking within-sample minority variant detection with short-read sequencing in M. tuberculosis

Shandukani Mulaudzi, Sanjana G. Kulkarni, María C. Marín, Maha R Farhat
article en

Abstract

Our analysis provides evidence to support best practices for low-frequency variant calling, including tool choice, masking and filtering. We also develop and provide a new error model that excludes false positive low-frequency variant calls from FreeBayes output.

bioRxiv (Cold Spring Harbor Laboratory)
Lemuel Shattuck Hospital (US), Massachusetts General Hospital (US), Dana-Farber Cancer Institute (US)
Good health and well-being
Openalex Percentile: Top 53%
Tuberculosis Research and Epidemiology
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