Adam Platt

A ML-framework for the discovery of next-generation IBD targets using a harmonized single-cell atlas of patient tissue

The paper develops a machine learning framework to identify cell type-specific gene targets for IBD using a harmonized single-cell atlas and validates them experimentally.

Misexpression of inactive genes in whole blood is associated with nearby rare structural variants

The paper identifies misexpression of inactive genes in whole blood and links it to nearby rare structural variants using RNA and genome sequencing data.

Genetic architecture of telomere length in 462,675 UK Biobank whole-genome sequences

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

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.

Influences of rare protein-coding genetic variants on the human plasma proteome in 50,829 UK Biobank participants

The paper identifies rare protein-coding variants influencing plasma protein levels in 50,829 UK Biobank participants using exome-wide association studies.

LTA4H association with montelukast response in early and late-onset asthma

This study investigates the association between LTA4H genetic variant rs2660845 and montelukast response in early-onset asthma, finding increased exacerbation risk in European carriers.

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.

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants

This study uses exome sequencing of 177,882 UK Biobank participants to assess the role of rare variants in 10,533 phenotypes, identifying 911 significant gene-phenotype relationships.

A broad exome study of the genetic architecture of asthma reveals novel patient subgroups

This study uses exome data from 24,576 asthma cases and 120,530 controls to identify rare variants associated with asthma risk, revealing novel subgroups and gene effects.

Identification of a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

The paper identifies a novel missense variant in SPDL1 associated with idiopathic pulmonary fibrosis through genome-wide association analysis.