Tag: Software
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies
Large-scale whole-genome sequencing (WGS) studies have improved our understanding of the contributions of coding and noncoding rare variants to com…
SVLearn: a dual-reference machine learning approach enables accurate cross-species genotyping of structural variants
Structural variations (SVs) are diverse forms of genetic alterations and drive a wide range of human diseases. Accurately genotyping SVs, particula…