A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material

CA Daniels, A Abdulkadir, MH Cleveland, JH McDaniel… - bioRxiv, 2024 - biorxiv.org
Somatic mosaicism is an important cause of disease, but mosaic and somatic variants are
often challenging to detect because they exist in only a fraction of cells. To address the need …