Publications by authors named "Trung-Hieu Le Nguyen"
Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.
Ngoc Hieu Tran Thanh-Huong Nguyen Thi Hung-Sang Tang Le-Phuc Hoang Trung-Hieu Le Nguyen Van Thong Nguyen Bao-Han Huu Nguyen Hieu Trong Nguyen Kim-Huong Thi Nguyen Hong-Dang Luu Nguyen Thanh-Phuong Thi Nguyen Quynh-Tho Thi Nguyen Hoai-Nghia Nguyen
Hum Mutat
October 2021
Article Synopsis
- Accurate profiling of recessive diseases in the Vietnamese population is crucial for developing effective carrier screening programs, but minorities are often underrepresented in genetic research.
- A comprehensive study analyzed genetic data from 985 Vietnamese individuals, identifying 118 recessive diseases and 164 variants, with some diseases having significantly higher carrier frequencies compared to global populations.
- The research revealed three prevalent diseases—beta-thalassemia, citrin deficiency, and phenylketonuria—with notable carrier rates, and introduced seven novel pathogenic variants, enhancing the understanding of recessive disorders specific to Vietnamese individuals.