Significant sparse polygenic risk scores across 813 traits in UK Biobank

Genetics of 35 blood and urine biomarkers in the UK Biobank

(2021) Nasa Sinnott-Armstrong et al.   NATURE GENETICS

Polygenic risk modeling with latent trait-related genetic components

(2021) Matthew Aguirre et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Improving reporting standards for polygenic scores in risk prediction studies

(2021) Hannah Wand et al.   NATURE

The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation

(2021) Samuel A. Lambert et al.   NATURE GENETICS

Genomic architecture and prediction of censored time-to-event phenotypes with a Bayesian genome-wide analysis

(2021) Sven E. Ojavee et al.   Nature Communications

Fast numerical optimization for genome sequencing data in population biobanks

(2021) Ruilin Li et al.   BIOINFORMATICS

Computationally efficient whole-genome regression for quantitative and binary traits

(2021) Joelle Mbatchou et al.   NATURE GENETICS

Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases

(2020) Christopher DeBoever et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

(2020) Nina Mars et al.   NATURE MEDICINE

Polygenic risk scores: from research tools to clinical instruments

(2020) Cathryn M. Lewis et al.   Genome Medicine

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

(2020) Yosuke Tanigawa et al.   PLoS Genetics

Tutorial: a guide to performing polygenic risk score analyses

(2020) Shing Wan Choi et al.   Nature Protocols

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

(2020) Ruilin Li et al.   BIOSTATISTICS

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

(2020) Junyang Qian et al.   PLoS Genetics

From Basic Science to Clinical Application of Polygenic Risk Scores

(2020) Naomi R. Wray et al.   JAMA Psychiatry

LDpred2: better, faster, stronger

(2020) Florian Privé et al.   BIOINFORMATICS

Efficient cross-trait penalized regression increases prediction accuracy in large cohorts using secondary phenotypes

(2019) Wonil Chung et al.   Nature Communications

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

Polygenic prediction via Bayesian regression and continuous shrinkage priors

(2019) Tian Ge et al.   Nature Communications

An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome

(2019) Tom G Richardson et al.   eLife

PRSice-2: Polygenic Risk Score software for biobank-scale data

(2019) Shing Wan Choi et al.   GigaScience

Phenome-wide Burden of Copy-Number Variation in the UK Biobank

(2019) Matthew Aguirre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2019) Yosuke Tanigawa et al.   Nature Communications

Improved polygenic prediction by Bayesian multiple regression on summary statistics

(2019) Luke R. Lloyd-Jones et al.   Nature Communications

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

(2018) Christopher DeBoever et al.   Nature Communications

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

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

(2018) Gregory McInnes et al.   BIOINFORMATICS

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults

(2018) Michael Inouye et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Polygenic scores via penalized regression on summary statistics

(2017) Timothy Shin Heng Mak et al.   GENETIC EPIDEMIOLOGY

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

(2017) Danish Saleheen et al.   NATURE

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

(2016) Manuel A. Rivas et al.   Nature Communications

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

(2015) Bjarni J. Vilhjálmsson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Regularization Paths for Generalized Linear Models via Coordinate Descent

(2015) Jerome Friedman et al.   Journal of Statistical Software

Higher risk of uveitis and dactylitis and older age of onset among ankylosing spondylitis patients withHLA-B*2705than patients withHLA-B*2704in the Chinese population

(2013) J. Qi et al.   TISSUE ANTIGENS

A Better Coefficient of Determination for Genetic Profile Analysis

(2012) Sang Hong Lee et al.   GENETIC EPIDEMIOLOGY

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

(2011) Gosia Trynka et al.   NATURE GENETICS

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Coefficients of Determination in Logistic Regression Models—A New Proposal: The Coefficient of Discrimination

(2009) Tue Tjur   AMERICAN STATISTICIAN