Author

A. Shuldiner

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Open access Aug 2026

FNIP1 variants are associated with favourable metabolism in 1 million humans

Altered energy metabolism is a shared driver across cardiometabolic diseases—the leading cause of death globally1. Energy metabolism varies between individuals and is partly heritable2, 3, 4, 5, 6, 7, 8–9. Here, to investigate the genetic basis of energy metabolism, we perform an exome-sequencing analysis of 1,032,116...

G. Hindy, Rene C. Adam, Olukayode A. Sosina et al. · Nature · 1 citation

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