Article-Journal

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

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 …

Significant Sparse Polygenic Risk Scores across 813 traits in UK Biobank featured image

Significant Sparse Polygenic Risk Scores across 813 traits in UK Biobank

We performed a systematic assessment of the predictive performance of PRS models across >1,500 traits in UK Biobank and report 813 PRS models with significant predictive …

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Yosuke Tanigawa, Ph.D.
Bayesian model comparison for rare-variant association studies of multiple phenotypes featured image

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.

A cross-population atlas of genetic associations for 220 human phenotypes featured image

A cross-population atlas of genetic associations for 220 human phenotypes

Using a set of GWAS summary statistics of diseases characterized from both European (UK Biobank and FinnGen) and East Asian (Biobank Japan) populations, we dissected latent DeGAs …

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

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.

Mapping the human genetic architecture of COVID-19 featured image

Mapping the human genetic architecture of COVID-19

This consortia flagship manuscript has 2000+ authors.

Fast Numerical Optimization for Genome Sequencing Data in Population Biobanks featured image

Fast Numerical Optimization for Genome Sequencing Data in Population Biobanks

In this paper led by Ruilin Li, we describe memory-efficient implementation of snpnet (sparse-snpnet and snpnet-v2).

[Review in Japanese] 複数の表現型を用いた人類遺伝統計学の大規模情報解析 (Large-scale human genetic statistical inference with multiple phenotypes)

[invited review written in Japanese] 日本語総説の執筆の機会をいただき、ゲノムワイド相関解析(GWAS)、ポリジェニック・リスク・スコア(polygenic risk score)、高次元データセットでの正則化つきの回帰モデル(penalized regression、Lasso 回帰など)に関する人類統計遺伝学の解析手法 …

Genetics of 35 blood and urine biomarkers in the UK Biobank featured image

Genetics of 35 blood and urine biomarkers in the UK Biobank

We analyzed the genetic basis of 35 blood and urine biomarkers in UK Biobank. We revealed that genetic effects on biomarkers inform the genetic basis of disease.

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Yosuke Tanigawa, Ph.D.
Survival Analysis on Rare Events Using Group-Regularized Multi-Response Cox Regression featured image

Survival Analysis on Rare Events Using Group-Regularized Multi-Response Cox Regression

In this paper led by Ruilin Li, we describe a new method to fit a sparse Cox Model for multiple time-to-event phenotypes from a large-scale (> 1 million features) genetic dataset.