BioinformaticsbioRxivPreprint
A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.
Camille A. Daniels, Adetola Abdulkadir, Megan H. Cleveland…·Nathan D. Olson
The paper develops a benchmark for detecting low-frequency mosaic variants in the HG002 reference material using high-coverage sequencing data and validates its utility across multiple technologies.
10 citations