Author

M. Thong

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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

Jul 2026

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project

The feasibility, effectiveness, and adaptability of implementing exome sequencing in resource-limited settings are demonstrated and its potential to transform rare disease diagnosis and care in low- and middle-income countries is highlighted.

Yasas D. Kolambage, C. Gonzaga-Jauregui, Guillermo Lay-Son et al. · Human Genetics · 0 citations