Sally John

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 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.

Rare genetic variants impact muscle strength

This study identifies six genes associated with hand grip strength using rare protein-coding variants in 340,319 individuals and shows additive effects with common variants.

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.

FinnGen: Unique genetic insights from combining isolated population and national health register data

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

The burden of rare protein-truncating genetic variants on human lifespan

This study examines the impact of rare protein-truncating variants on human lifespan using whole-exome sequencing data from the UK Biobank, identifying significant associations with several genes.

OmicsView: omics data analysis through interactive visual analytics

OmicsView provides an interactive platform for analyzing omics data, enabling researchers to explore disease pathology and identify biomarkers using preprocessed datasets.

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.

Pairwise genetic interactions modulate lipid plasma levels and cellular uptake

The paper identifies genetic and RNAi-based pairwise interactions between lipid-related genes that modulate plasma and cellular lipid levels, suggesting potential drug target pairs for lipid-lowering therapies.

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.

Neurology-related protein biomarkers are associated with general fluid cognitive ability and brain volume in older age

This study identifies neurology-related proteins in plasma associated with cognitive ability and brain volume in older adults, with partial mediation by brain volume.

Discovering in vivo cytokine eQTL interactions from a lupus clinical trial

The paper identifies in vivo eQTL interactions with cytokine levels in a lupus trial, finding novel regulatory mechanisms and potential therapeutic targets.

Phenome-wide association studies (PheWAS) across large "real-world data" population cohorts support drug target validation

The paper uses PheWAS across large cohorts to identify genetic associations with drug targets and predict drug safety and efficacy.