Hui‐Qi Qu

The paper establishes AVI_QUANTILE thresholds for classifying SNVs using ClinVar data and evaluates their performance in variant prioritization and fine-mapping.

SCOTCH improves isoform-level gene expression characterization using long-read single-cell RNA sequencing by refining sub-exon boundaries and reducing false positives.

This companion paper identifies a β-casein-specific TCR clonotype and its HLA restriction in a patient with EoE milk allergy, supporting findings from the parent study.

This study identifies SYCP3 as a driver of prostate cancer metastasis through CRISPR screening and shows its role in invasion, adhesion, and radiotherapy resistance.

This study identifies 22 novel genetic loci associated with low polygenic risk score type 1 diabetes by analyzing rare variants in two independent cohorts.

This study identifies genetic correlations between COVID-19 and various diseases and traits using GWAS data, validating known risk factors and reporting novel associations.

This paper develops a machine learning model to interpret DNA variants in MODY genes using ACMG criteria, achieving over 95% accuracy for gene-specific classification.