Article-Journal

Polygenic risk modeling with latent trait-related genetic components featured image

Polygenic risk modeling with latent trait-related genetic components

Polygenic risk score (PRS) has been proposed for disease risk prediction with potential clinical relevance for some traits, but its personalized interpretation is generally …

A fast and scalable framework for large-scale and ultrahigh-dimensional sparse regression with application to the UK Biobank featured image

A fast and scalable framework for large-scale and ultrahigh-dimensional sparse regression with application to the UK Biobank

In this project led by Junyang Qian, we developed BASIL, a novel algorithm to fit large-scale L1 penalized (Lasso) regression model using an iterative procedure, and implemented R …

Fast Lasso method for large-scale and ultrahigh-dimensional Cox model with applications to UK Biobank featured image

Fast Lasso method for large-scale and ultrahigh-dimensional Cox model with applications to UK Biobank

We propose extending the BASIL/snpnet algorithm to fit the L1 penalized Cox proportional hazards model using a large-scale dataset from a genotyped cohort.

Sex-specific genetic effects across biomarkers featured image

Sex-specific genetic effects across biomarkers

In this study led by Emily Flynn, we discovered a surprising sex-specificity in the genetics of testosterone.

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

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 …

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Yosuke Tanigawa, Ph.D.
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases featured image

Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases

Large-scale population-based genotyped biobanks with dense phenotypic information provide opportunities for genetic analysis at scale.

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology featured image

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology

We developed DeGAs to decompose shared genetic associations across 2,138 UK Biobank phenotypes and identify their underlying pleiotropic structure.

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Yosuke Tanigawa, Ph.D.
Significant shared heritability underlies suicide attempt and clinically predicted probability of attempting suicide featured image

Significant shared heritability underlies suicide attempt and clinically predicted probability of attempting suicide

Using two independent datasets from genotyped cohorts (UK Biobank and electronic medical record (EMR) in Vanderbilt University Medical Center), we quantified the heritability …

Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics featured image

Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics

We present Global Biobank Engine as a platform to visualize genome- and phenome-wide associations and perform statistical inference using those association data.