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Article

Selected heterozygosity at cis-regulatory sequences increases the expression homogeneity of a cell population in humans.

Genome biology - 28 Jul 2016

Sung Min Kyung, Jang Juneil, Lee Kang Seon, Ghim Cheol-Min, Choi Jung Kyoon

Abstract excerpt

BACKGROUND: Examples of heterozygote advantage in humans are scarce and limited to protein-coding sequences. Here, we attempt a genome-wide functional inference of advantageous heterozygosity at cis-regulatory regions. RESULTS: The single-nucleotide polymorphisms bearing the signatures of balancing selection are enriched in active cis-regulatory regions of immune cells and epithelial cells, the latter of which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27468897
DOI: 10.1186/s13059-016-1027-8
PMCID: PMC4964047

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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