Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

Polygenic architecture of rare coding variation across 394,783 exomes

DJ Weiner, A Nadig, KA Jagadeesh, KK Dey, BM Neale… - Nature, 2023 - nature.com
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

LDpred2: better, faster, stronger

F Privé, J Arbel, BJ Vilhjálmsson - Bioinformatics, 2020 - academic.oup.com
Motivation Polygenic scores have become a central tool in human genetics research.
LDpred is a popular method for deriving polygenic scores based on summary statistics and …

The personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …

Genetics of 35 blood and urine biomarkers in the UK Biobank

N Sinnott-Armstrong, Y Tanigawa, D Amar, N Mars… - Nature …, 2021 - nature.com
Clinical laboratory tests are a critical component of the continuum of care. We evaluate the
genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n …

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

International Multiple Sclerosis Genetics Consortium*†… - Science, 2019 - science.org
INTRODUCTION Multiple sclerosis (MS) is an inflammatory and degenerative disease of the
central nervous system (CNS) that often presents in young adults. Over the past decade …

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

R Malik, G Chauhan, M Traylor, M Sargurupremraj… - Nature …, 2018 - nature.com
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown.
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …

Minimal phenotyping yields genome-wide association signals of low specificity for major depression

N Cai, JA Revez, MJ Adams, TFM Andlauer, G Breen… - Nature …, 2020 - nature.com
Minimal phenotyping refers to the reliance on the use of a small number of self-reported
items for disease case identification, increasingly used in genome-wide association studies …

[HTML][HTML] Polygenic prediction via Bayesian regression and continuous shrinkage priors

T Ge, CY Chen, Y Ni, YCA Feng, JW Smoller - Nature communications, 2019 - nature.com
Polygenic risk scores (PRS) have shown promise in predicting human complex traits and
diseases. Here, we present PRS-CS, a polygenic prediction method that infers posterior …