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[Evaluation of performance of five bioinformatics software for the prediction of missense mutations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016

Chen Qianting, Dai Congling, Zhang Qianjun, Du Juan, Li Wen

Abstract excerpt

OBJECTIVE: To study the prediction performance evaluation with five kinds of bioinformatics software (SIFT, PolyPhen2, MutationTaster, Provean, MutationAssessor). METHODS: From own database for genetic mutations collected over the past five years, Chinese literature database, Human Gene Mutation Database, and dbSNP, 121 missense mutations confirmed by functional studies, and 121 missense mutations suspected to be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27577208
DOI: 10.3760/cma.j.issn.1003-9406.2016.05.009

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MAF

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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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