Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile 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 …

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 …

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 …

Ancestry-inclusive dog genomics challenges popular breed stereotypes

K Morrill, J Hekman, X Li, J McClure, B Logan… - Science, 2022 - science.org
Behavioral genetics in dogs has focused on modern breeds, which are isolated subgroups
with distinctive physical and, purportedly, behavioral characteristics. We interrogated breed …

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 …

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

P Wainschtein, D Jain, Z Zheng, LA Cupples… - Nature …, 2022 - nature.com
Analyses of data from genome-wide association studies on unrelated individuals have
shown that, for human traits and diseases, approximately one-third to two-thirds of …

[PDF][PDF] Genome-wide association studies in ancestrally diverse populations: opportunities, methods, pitfalls, and recommendations

RE Peterson, K Kuchenbaecker, RK Walters, CY Chen… - Cell, 2019 - cell.com
Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …

Genetic correlations of polygenic disease traits: from theory to practice

W Van Rheenen, WJ Peyrot, AJ Schork… - Nature Reviews …, 2019 - nature.com
The genetic correlation describes the genetic relationship between two traits and can
contribute to a better understanding of the shared biological pathways and/or the causality …

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

G Davies, M Lam, SE Harris, JW Trampush… - Nature …, 2018 - nature.com
General cognitive function is a prominent and relatively stable human trait that is associated
with many important life outcomes. We combine cognitive and genetic data from the …