Discovery that apolipoprotein C3 induces inflammasome activation specifically in its delipidated form, revealing new insights into inflammatory mechanisms in cardiovascular disease.

Large-scale functional characterization of OCTN2 variants enabling development of a protein-specific variant effect predictor for Carnitine Transporter Deficiency.

Analysis of drug response pharmacogenetics across 200,000 UK Biobank participants, examining the genetic basis of variation in drug efficacy and adverse reactions.

A review of genome-wide association study approaches in pharmacogenomics, examining how GWAS has advanced our understanding of genetic influences on drug response.

A comprehensive review examining the opportunities and challenges in interpreting rare genetic variants in clinically important genes, with implications for precision medicine.

A machine learning system for real-time triage and processing of COVID-19 case report faxes, developed to support public health response during the pandemic.

A transfer learning approach for predicting the functional impact of CYP2D6 haplotypes, a key pharmacogene affecting drug metabolism for many commonly prescribed medications.

An assessment of how digital phenotyping approaches can enhance genetic studies of human diseases by improving phenotype definitions and discovery power.

A comprehensive population-scale analysis of pharmacogenetic variation in the UK Biobank, characterizing the distribution of clinically actionable pharmacogenetic variants.

Identifying genetic factors, including LPA and APOE variants, that are associated with statin drug selection patterns in the UK Biobank population.

Computational identification of candidate drugs that may inhibit SARS-CoV-2 cell entry through homology modeling of the TMPRSS2 protease.

A web-based platform for browsing and exploring genotype-phenotype associations from biobank-scale summary statistics, enabling accessible exploration of genetic associations.

Computational approaches for predicting venous thromboembolism risk from exome sequencing data, developed as part of the Critical Assessment of Genome Interpretation (CAGI) community challenge.

A review exploring how large-scale genomic data is transforming pharmacogenomics research and its translation from laboratory discoveries to clinical practice.

A comprehensive analysis of protein-truncating variants across over 337,000 UK Biobank participants, revealing medically relevant genetic variation at population scale.

A scalable cloud-based platform enabling interactive analysis of terabyte-scale genomic variant datasets, demonstrating practical approaches for big data genomics.