The Extent of Edgetic Perturbations in the Human Interactome Caused by Population-Specific Mutations.

ABSTRACT: Until recently, efforts in population genetics have been focused primarily on people of European ancestry. To attenuate this bias, global population studies, such as the 1000 Genomes Project, have revealed differences in genetic variation across ethnic groups. How many of these differences can be attributed to population-specific traits? To answer this question, the mutation data must be linked with functional outcomes. A new "edgotype" concept has been proposed, which emphasizes the interaction-specific, "edgetic", perturbations caused by mutations in the interacting proteins. In this work, we performed systematic in silico edgetic profiling of ~50,000 non-synonymous SNVs (nsSNVs) from the 1000 Genomes Project by leveraging our semi-supervised learning approach SNP-IN tool on a comprehens

SUBMITTER: Cui H 

PROVIDER: S-EPMC11154503 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature