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Functional and Structural Consequence of Rare Exonic Single Nucleotide Polymorphisms: One Story, Two Tales.

Genome biology and evolution - 9 Oct 2015

Gu Wanjun, Gurguis Christopher I, Zhou Jin J, Zhu Yihua, Ko Eun-A, Ko Jae-Hong, Wang Ting, Zhou Tong

Abstract excerpt

Genetic variation arising from single nucleotide polymorphisms (SNPs) is ubiquitously found among human populations. While disease-causing variants are known in some cases, identifying functional or causative variants for most human diseases remains a challenging task. Rare SNPs, rather than common ones, are thought to be more important in the pathology of most human diseases. We propose that rare SNPs should be...

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PMID: 26454016
DOI: 10.1093/gbe/evv191
PMCID: PMC4684694

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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