Integrative multiomic analysis on single-nucleotide variants identifies candidate genes for human craniofacial malformation
Ming Ho Yam, Karl Kam Hei So, Ka Kui Tong, Kwong Wai Choy, Mai Har Sham
This paper identifies 249 candidate genes for human craniofacial malformation by integrating GWAS variants with epigenomic and single-cell transcriptomic data using machine learning.
bioRxiv · Dec 29, 2025 · PreprintGenetics