Skip to main content

Rare Variants

Integration of rare expression outlier-associated variants improves polygenic risk prediction featured image
Polygenic Scores Rare Variants Obesity

Integration of rare expression outlier-associated variants improves polygenic risk prediction

Polygenic risk score (PRS), an approach to estimate genetic liability to complex traits by aggregating the effects across multiple genetic variants, has attracted increasing …

Read more about Integration of rare expression outlier-associated variants improves polygenic risk prediction
Bayesian model comparison for rare-variant association studies of multiple phenotypes featured image
Rare Variants UK Biobank

Bayesian model comparison for rare-variant association studies of multiple phenotypes

When applied to cardiometabolic biomarker traits in UK Biobank, MRP identified gene-biomarker associations that were not identified in single-variant GWAS analysis.

Read more about Bayesian model comparison for rare-variant association studies of multiple phenotypes
APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups featured image
Rare Variants

APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups

We examined the causal relationship between the genetically increased triglycerides and the risk of coronary artery diseases in Asian Indians.

Read more about APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma featured image
Rare Variants UK Biobank Glaucoma

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

We identified an allelic series of rare protein-altering variants in ANGPTL7 that lower intraocular pressure and protect against glaucoma, highlighting ANGPTL7 as a therapeutic …

Yosuke Tanigawa, Ph.D.
Yosuke Tanigawa, Ph.D.
•
Read more about Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study featured image
Rare Variants UK Biobank

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

Using the UK Biobank population cohort, we investigated the genetic effects of Protein-truncating variants (PTVs) and the clinical impacts.

Read more about Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study