Whole exome sequencing reveals a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia
Wai-Yee Lam, Man‐Ting So, Jacob Shujui Hsu, Bhy Chung, Diem Ngoc Ngo, Pham Anh Nguyen, Hannah M. Mitchison, Dagan Jenkins, Christopher O’Callaghan, Pak Chung Sham, María-Mercé García-Barceló, Vincent Chi‐Hang Lui, Clara Sze-Man Tang, Paul Kwong Hang Tam
The paper uses whole exome sequencing to identify ciliary gene mutations in nonsyndromic biliary atresia, finding significant enrichment of deleterious variants in liver-expressed ciliary genes.
medRxiv · May 5, 2020 · PreprintGenetic & Genomic Medicine