Phenotyping

Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags

We introduce "hypometric genetics," an approach to investigate the genetic basis of binarized traits representing the presence of below-the-limit-of-quantification (BLQ) quality …

Yosuke Tanigawa, Ph.D.

• Oct 22, 2024 • 1 min read

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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 …

[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

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.

Yosuke Tanigawa, Ph.D.

• Apr 7, 2021 • 1 min read

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Cardiac Imaging of Aortic Valve Area From 34287 UK Biobank Participants Reveals Novel Genetic Associations and Shared Genetic Comorbidity With Multiple Disease Phenotypes

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.

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 …