Jianhua Zhang, Mritunjay Pandey, Adam Awe, Nicole Lue, Claire Kittock, Emma Fikse, Katherine Degner, Jenna Staples, Neha Mokhasi, Weiping Chen, Yanqin Yang, Poorni Adikaram, Nirmal Jacob, Emily Greenfest-Allen, Rachel Thomas, Laura Bomeny, Yajun Zhang, Timothy J Petros, Xiaowen Wang, Yulong Li, William F Simonds
Disease-associated variants identified from genome-wide association studies (GWASs) frequently map to non-coding areas of the genome such as introns and intergenic regions. An exclusive reliance on gene-agnostic methods of genomic investigation could limit the identification of relevant genes associated with polygenic diseases such as Alzheimer disease (AD). To overcome such potential restriction, we developed a gene-constrained analytical method that considers only moderate- and high-risk variants that affect gene coding sequences...
February 3, 2024: American Journal of Human Genetics