Author

A. Shuldiner

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Open access Aug 2026

FNIP1 variants are associated with favourable metabolism in 1 million humans

An exome-sequencing analysis of 1,032,116 people from America, Europe and Asia is performed, and associations between rare protein-coding variants and the ratio of triglyceride to high-density-lipoprotein cholesterol (TG:HDL) are estimated.

G. Hindy, Rene C. Adam, O. Sosina et al. · Nature · 2 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