Jeffrey F. Waring

New Insights on Bridging Integrator 1 Protein Isoforms as a Risk Increasing Gene in Alzheimer's Disease

The paper identifies BIN1 isoform expression patterns and genetic variants associated with Alzheimer's disease risk using GWAS and hiPSC differentiation data.

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

A genome-wide CRISPR screen supported by human genetics identifies the TNRC18 gene locus as a novel regulator of inflammatory signaling

A genome-wide CRISPR screen and genetic analysis identify TNRC18 as a novel regulator of IL-1β production and a risk factor for inflammatory diseases.

A FinnGen pilot clinical recall study for Alzheimer's disease

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences

The paper characterizes CFTR variant diversity across six ancestries using UK Biobank whole exome sequences, identifying ancestry-specific variants and associations with CF-related phenotypes.

A meta-analysis of genome-wide association studies in 614,243 individuals identifies 59 novel susceptibility loci underlying Dupuytren's contracture

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.