Snehal B. Patil

Genome-wide association meta-analyses over one million individuals identify 54 loci associated with urinary incontinence and its subtypes

Tumor Subtype Classification Tool for HPV-associated Head and Neck Cancers

This paper develops a machine learning classifier to subtype HPV+ HNSCC tumors into IMU or KRT using bulk RNA-seq data and validates its accuracy across multiple cohorts.

The Michigan Genomics Initiative: a biobank linking genotypes and electronic clinical records in Michigan Medicine patients

The Michigan Genomics Initiative links genotypes with electronic clinical records in Michigan Medicine patients, showing higher disease prevalence and validating GWAS findings.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

ExPRSweb - An Online Repository with Polygenic Risk Scores for Common Health-related Exposures

The paper develops ExPRSweb, an online repository of polygenic risk scores for common exposures, showing improved prediction of chronic conditions when combined with traditional PRSs.

Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation

This study identifies 17 genetic risk loci for spontaneous coronary artery dissection (SCAD), including 12 new ones, and highlights genes related to artery integrity and coagulation.

Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals

This study identifies 424 new loci associated with kidney function using GWAS data from over 1.2 million individuals and prioritizes 34 genes for further functional investigation.

Comprehensive enhancer-target gene assignments improve gene set level interpretation of genome-wide regulatory data

The paper develops genome-wide enhancer-to-target gene assignments across >500 cell types and shows they outperform naive methods in gene set enrichment analysis.

Cancer PRSweb - an Online Repository with Polygenic Risk Scores (PRS) for Major Cancer Traits and Their Phenome-wide Exploration in Two Independent Biobanks

The paper introduces Cancer-PRSweb, an online repository of polygenic risk scores for cancer traits, evaluated in two biobanks with predictive performance metrics and phenome-wide association studies.

Poly-Enrich: Count-based Methods for Gene Set Enrichment Testing with Genomic Regions

Poly-Enrich improves gene set enrichment testing for genomic regions by modeling peak counts with a negative binomial model, outperforming previous methods in certain scenarios.