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Article

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

Human genomics - 15 Sept 2018

Jin Yu, Wang Jingbo, Bachtiar Maulana, Chong Samuel S, Lee Caroline G L

Abstract excerpt

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...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30219098
DOI: 10.1186/s40246-018-0175-1
PMCID: PMC6139121

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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