Ivan A. Adzhubei

Classification of ACE variants related to Alzheimer's disease (AD): the ACE mutations -- AD browser

The paper creates a database of ACE variants linked to Alzheimer's disease, estimates their population frequency, and links them to reduced blood ACE levels.

Joint estimation and imputation of variant functional effects using high throughput assay data

The paper develops FUSE, a framework that jointly estimates and imputes variant functional effects using deep mutational scanning data, improving variant impact predictions and clinical discrimination.

DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features

DeMAG improves variant classification by integrating structural and evolutionary epistatic features, reducing false positives and improving accuracy for clinically actionable genes.

Informing Variant Assessment using Structured Evidence from Prior Classifications (PS1, PM5, and PVS1 Sequence Variant Interpretation Criteria)

The paper uses prior ClinVar variant classifications to inform ACMG/AMP variant interpretation by identifying SNVs with similar functional consequences to pathogenic variants.

A literature review at genome scale: improving clinical variant assessment

This paper reviews literature to improve clinical variant assessment by using citation data to enhance pathogenicity prediction.