Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders | Zendy

Sirawit Ittisoponpisan | Zendy; Alessia David | Zendy

Open Access

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders

Author(s) -

Sirawit Ittisoponpisan,

Alessia David

Publication year - 2018

Publication title -

journal of the endocrine society

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.046

H-Index - 20

ISSN - 2472-1972

DOI - 10.1210/js.2018-00077

Subject(s) - in silico , concordance , biology , gene , computational biology , missense mutation , genetics , bioinformatics , mutation

Variants of uncertain significance (VUSs) lack sufficient evidence, in terms of statistical power or experimental studies, to allow unequivocal determination of their damaging effect. VUSs are a major burden in performing genetic analysis. Although in silico prediction tools are widely used, their specificity is low, thus urgently calling for methods for prioritizing and characterizing variants.

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