Qin Yan

This study evaluates and improves low-frequency somatic mutation detection across multiple sequencing platforms using a simulated benchmark and a machine learning-based caller.

CMS improves sequencing uniformity and accuracy in non-canonical genomic regions by optimizing chemistry and enzymatic systems, reducing low-coverage bins and false negatives.

The paper presents a method to accurately identify CNVs and mosaicism from few cells with low GC bias using a single-molecule sequencing platform.