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 PRMT7 as a novel driver of metastasis in prostate cancer through CRISPR/Cas9 screens and validates its role in promoting cell motility and tumor dissemination.

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.