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

Yasas D. Kolambage C. Gonzaga-Jauregui Guillermo Lay-Son Rupesh Mishra N. Mabaso S. Tae Kristin A. Maloney C. Galaz-Montoya Dineshani Hettiarachchi B. Dillon Nilam Thakur L. de Menten Cecilia Mellado C. Greene Toni I. Pollin A. Krause M. Thong A. Shuldiner V. Dissanayake
Jul 2026 · Human Genetics · Vol 145 · 0 citations · 26 references
Medicine

TL;DR

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.

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