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, Lana Hoang, Trung-Hieu Nguyen, Nhat Thang Tran, Thu Huong Nhat Trinh, Van Thong Nguyen, Bao‐Han Huu Nguyen, Hieu Trong Nguyen, Loc Phuoc Doan, Ngoc‐Minh Phan, Kim‐Huong Thi Nguyen, Hong‐Dang Luu Nguyen, Minh‐Tam Thi Quach, , Hoa Giang
This study identifies 85 recessive diseases in the Vietnamese population through exome sequencing, highlighting three highly prevalent conditions and discovering novel pathogenic variants.
Human Mutation · Jul 7, 2021Peer-reviewedGenetics