Discovery and implications of polygenicity of common diseases

Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies

(2021) Aaron J. Stern et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetically Predicted Blood Pressure and Risk of Atrial Fibrillation

(2021) Matthew C. Hyman et al.   HYPERTENSION

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

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

Widespread signatures of natural selection across human complex traits and functional genomic categories

(2021) Jian Zeng et al.   Nature Communications

GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

(2021) Nasa Sinnott-Armstrong et al.   eLife

Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney

(2021) James M. Eales et al.   NATURE GENETICS

Problems with Using Polygenic Scores to Select Embryos

(2021) Patrick Turley et al.   NEW ENGLAND JOURNAL OF MEDICINE

From variant to function in human disease genetics

(2021) Tuuli Lappalainen et al.   SCIENCE

Resource profile and user guide of the Polygenic Index Repository

(2021) Joel Becker et al.   Nature Human Behaviour

Pathway paradigms revealed from the genetics of inflammatory bowel disease

(2020) Daniel B. Graham et al.   NATURE

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

(2020) Jamie E. Craig et al.   NATURE GENETICS

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

(2020) Konrad J. Karczewski et al.   NATURE

Beyond SNP heritability: Polygenicity and discoverability of phenotypes estimated with a univariate Gaussian mixture model

(2020) Dominic Holland et al.   PLoS Genetics

Using genetics for social science

(2020) K. Paige Harden et al.   Nature Human Behaviour

Risk prediction of late-onset Alzheimer’s disease implies an oligogenic architecture

(2020) Qian Zhang et al.   Nature Communications

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

(2020) Akl C. Fahed et al.   Nature Communications

When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases

(2019) Ligia Elena González-Serrano et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Apparent latent structure within the UK Biobank sample has implications for epidemiological analysis

(2019) Simon Haworth et al.   Nature Communications

Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection

(2019) Armin P. Schoech et al.   Nature Communications

Clinical use of current polygenic risk scores may exacerbate health disparities

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

Complex Trait Prediction from Genome Data: Contrasting EBV in Livestock to PRS in Humans

(2019) Naomi R. Wray et al.   GENETICS

Polygenic prediction via Bayesian regression and continuous shrinkage priors

(2019) Tian Ge et al.   Nature Communications

Extreme Polygenicity of Complex Traits Is Explained by Negative Selection

(2019) Luke J. O'Connor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

(2019) Jong-Min Lee et al.   CELL

A method for genome-wide genealogy estimation for thousands of samples

(2019) Leo Speidel et al.   NATURE GENETICS

Improved polygenic prediction by Bayesian multiple regression on summary statistics

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

Genetic correlates of social stratification in Great Britain

(2019) Abdel Abdellaoui et al.   Nature Human Behaviour

The nature of nurture: Effects of parental genotypes

(2018) Augustine Kong et al.   SCIENCE

Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians

(2018) Neil M Davies et al.   BMJ-British Medical Journal

Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians

(2018) Neil M Davies et al.   BMJ-British Medical Journal

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

(2018) Mari E. K. Niemi et al.   NATURE

Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits

(2018) Yan Zhang et al.   NATURE GENETICS

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

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

Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations

(2018) Steven Gazal et al.   NATURE GENETICS

Leveraging Polygenic Functional Enrichment to Improve GWAS Power

(2018) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

(2018) Nasim Mavaddat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An atlas of genetic associations in UK Biobank

(2018) Oriol Canela-Xandri et al.   NATURE GENETICS

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

(2017) Julie Lecarpentier et al.   JOURNAL OF CLINICAL ONCOLOGY

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Reevaluation of SNP heritability in complex human traits

(2017) Doug Speed et al.   NATURE GENETICS

Recent Advances in Mitochondrial Aminoacyl-tRNA Synthetases and Disease

(2017) Marie Sissler et al.   TRENDS IN MOLECULAR MEDICINE

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

The road to precision psychiatry: translating genetics into disease mechanisms

(2016) Michael J Gandal et al.   NATURE NEUROSCIENCE

Dissecting the genetics of complex traits using summary association statistics

(2016) Bogdan Pasaniuc et al.   NATURE REVIEWS GENETICS

Detection of human adaptation during the past 2000 years

(2016) Yair Field et al.   SCIENCE

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

(2015) Hilary K Finucane et al.   NATURE GENETICS

FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

(2015) Melina Claussnitzer et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comparative analysis of metazoan chromatin organization

(2014) Joshua W. K. Ho et al.   NATURE

Obesity-associated variants within FTO form long-range functional connections with IRX3

(2014) Scott Smemo et al.   NATURE

The mystery of missing heritability: Genetic interactions create phantom heritability

(2012) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies

(2010) A. Eyre-Walker   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sporadic cases are the norm for complex disease

(2009) Jian Yang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Linkage disequilibrium — understanding the evolutionary past and mapping the medical future

(2008) Montgomery Slatkin   NATURE REVIEWS GENETICS