Xiaolei Zhang

The paper uses genetic data from Denmark and Britain to infer historical North Sea migrations from the Middle Ages to the Industrial Revolution, identifying distinct population patterns and migration trends.

This paper estimates the penetrance of rare variants in cardiomyopathy genes using cross-sectional data from genetic testing, finding substantial penetrance for dominant cardiomyopathies and variant-specific differences.

This paper introduces Paralogue Annotation, a method using homologous protein variants to predict disease-causing missense variants with high precision.

This paper introduces HMC, a high-resolution genetic constraint score for missense variants, improving variant prioritization and gene discovery for developmental disorders.

This study examines the clinical impact of rare variants in HCM-associated genes in the UK Biobank, finding that pathogenic variants are linked to increased cardiovascular risk and subclinical phenotypes, while non-pathogenic variants show minimal effect.

This paper introduces CardioBoost, a disease-specific variant classifier for inherited cardiac conditions, showing improved accuracy in predicting pathogenicity compared to genome-wide tools.

The paper introduces UTRannotator, a tool to annotate 5'UTR variants that create or disrupt uORFs, annotating 30.8% of ClinVar 5UTR pathogenic variants.

The paper systematically studies uORF variants in 15,708 genomes, showing they are under strong negative selection and contribute to disease.

The paper quantifies variant pathogenicity in hypertrophic cardiomyopathy using etiological fraction, increasing actionable variant detection by 14-20%.

CardioClassifier is a decision-support tool for inherited cardiac conditions that improves variant interpretation by integrating disease-specific annotations and case data.