Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.

ABSTRACT:

Background

Genetic polymorphisms can contribute to phenotypic differences amongst individuals, including disease risk and drug response. Characterization of genetic polymorphisms that modulate gene expression and/or protein function may facilitate the identification of the causal variants. Here, we present the architecture of genetic polymorphisms in the human genome focusing on those predicted to be potentially functional/under natural selection and the pathways that they reside.

Results

In the human genome, polymorphisms that directly affect protein sequences and potentially affect function are the most constrained variants with the lowest single-nucleotide variant (SNV) density, least population differentiation and most significant enrichment of rare alleles. SNVs which p

SUBMITTER: Jin Y 

PROVIDER: S-EPMC6139121 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature