15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

A saturated map of common genetic variants associated with human height

L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell… - Nature, 2022 - nature.com
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …

Large-scale genome-wide association study of coronary artery disease in genetically diverse populations

C Tcheandjieu, X Zhu, AT Hilliard, SL Clarke… - Nature medicine, 2022 - nature.com
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …

The complex genetic architecture of Alzheimer's disease: novel insights and future directions

SJ Andrews, AE Renton, B Fulton-Howard… - …, 2023 - thelancet.com
Background Alzheimer's disease (AD) is a complex multifactorial neurodegenerative
disorder and the most common form of dementia. AD is highly heritable, with heritability …

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 …

A brief history of human disease genetics

M Claussnitzer, JH Cho, R Collins, NJ Cox… - Nature, 2020 - nature.com
A primary goal of human genetics is to identify DNA sequence variants that influence
biomedical traits, particularly those related to the onset and progression of human disease …

Towards clinical utility of polygenic risk scores

SA Lambert, G Abraham, M Inouye - Human molecular genetics, 2019 - academic.oup.com
Prediction of disease risk is an essential part of preventative medicine, often guiding clinical
management. Risk prediction typically includes risk factors such as age, sex, family history of …

Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits

BC Zhang, A Biddanda, ÁF Gunnarsson, F Cooper… - Nature Genetics, 2023 - nature.com
Genome-wide genealogies compactly represent the evolutionary history of a set of genomes
and inferring them from genetic data has the potential to facilitate a wide range of analyses …

Personalized early detection and prevention of breast cancer: ENVISION consensus statement

N Pashayan, AC Antoniou, U Ivanus… - Nature reviews Clinical …, 2020 - nature.com
Abstract The European Collaborative on Personalized Early Detection and Prevention of
Breast Cancer (ENVISION) brings together several international research consortia working …