FaceSNPs: Identifying Face-Related SNPs from the Human Genome

The human face is an important part of the human body. Finding SNPs associated with its different regions can open doors to deeper understanding of different genetic diseases affecting the face, improve genotype-to-phenotype analysis for forensics, etc. In this work we propose a process for constructing a panel of SNPs associated with the human face leveraging a database of published work on different face regions. We validate our selection by using them to predict human biogeographical ancestry at both continent and sub-continent levels, as well as by manual confirmation of selected genes. Although our process makes no assumptions on ancestry informativeness of selected SNPs, our SNP panel perform comparatively well at the task, with some subsets outperforming those from published work. We also highlight genes/chromosomes that promise better discriminative power to help those under resource constraint focus on only a few genes/chromosomes for further analyses.