A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies
A framework for detecting noncoding rare variant associations of large-scale whole-genome sequencing studies
Zilin Li,Xihao Li,497 著者,Kerri Wiggins
2021 · DOI: 10.1038/s41592-022-01640-x
bioRxiv · 68 件の引用
TLDR
This work proposes a computationally-efficient noncoding RV association-detection framework that uses STAAR (variant-set test for association using annotation information) to group noncoding variants in gene-centric analysis based on functional categories and develops STAARpipeline to perform flexible noncoding RV association analysis.