Nature

Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses

For years, high sequencing costs prevented population-scale studies of rare variants for complex traits. However, with continued technological innovation, sequencing costs are decreasing, meaning ...
Nature

Systematically developing a registry of splice-site creating variants utilizing massive publicly available transcriptome sequence data

Genomic variants causing abnormal splicing play important roles in genetic disorders and cancer development. Among them, variants that cause the formation of novel splice-sites (splice-site creating ...