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Article

regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.

Human genetics - 1 Sept 2017

Zhang Xinjun, Li Meng, Lin Hai, Rao Xi, Feng Weixing, Yang Yuedong, Mort Matthew, Cooper David N, Wang Yue, Wang Yadong, Wells Clark, Zhou Yaoqi, Liu Yunlong

Abstract excerpt

While synonymous single-nucleotide variants (sSNVs) have largely been unstudied, since they do not alter protein sequence, mounting evidence suggests that they may affect RNA conformation, splicing, and the stability of nascent-mRNAs to promote various diseases. Accurately prioritizing deleterious sSNVs from a pool of neutral ones can significantly improve our ability of selecting functional genetic variants...

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Identifiers

PMID: 28391525
DOI: 10.1007/s00439-017-1783-x
PMCID: PMC5602096

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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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