Open access
Jul 2026
Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening
Reanalyzed whole-genome sequencing data from 1,578 unsolved probands and identified pathogenic variants in multiple snRNA genes, including RNU4-2, RNU2-2, RNU5B-1, and RNU4ATAC, and developed an snRNA-extended WES approach by incorporating capture probes targeting 50 snRNA genes into a standard exome design.
Yuka Nakano, Hisato Suzuki, Yukiko Kuroda et al.
· iScience · 0 citations