Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

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 …

Genome evolution across 1,011 Saccharomyces cerevisiae isolates

J Peter, M De Chiara, A Friedrich, JX Yue, D Pflieger… - Nature, 2018 - nature.com
Large-scale population genomic surveys are essential to explore the phenotypic diversity of
natural populations. Here we report the whole-genome sequencing and phenotyping of …

[HTML][HTML] Genome-wide association studies of brain imaging phenotypes in UK Biobank

LT Elliott, K Sharp, F Alfaro-Almagro, S Shi, KL Miller… - Nature, 2018 - nature.com
The genetic architecture of brain structure and function is largely unknown. To investigate
this, we carried out genome-wide association studies of 3,144 functional and structural brain …

Prevention and Control of Hypertension: JACC Health Promotion Series

RM Carey, P Muntner, HB Bosworth… - Journal of the American …, 2018 - jacc.org
Hypertension, the leading risk factor for cardiovascular disease, originates from combined
genetic, environmental, and social determinants. Environmental factors include …

Discovery and implications of polygenicity of common diseases

PM Visscher, L Yengo, NJ Cox, NR Wray - Science, 2021 - science.org
The sequencing of the human genome has allowed the study of the genetic architecture of
common diseases: the number of genomic variants that contribute to risk of disease and …

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 …

Genetics of Parkinson's disease: an introspection of its journey towards precision medicine

S Bandres-Ciga, M Diez-Fairen, JJ Kim… - Neurobiology of …, 2020 - Elsevier
ABSTRACT A substantial proportion of risk for Parkinson's disease (PD) is driven by
genetics. Progress in understanding the genetic basis of PD has been significant. So far …

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 …

The need for uncertainty quantification in machine-assisted medical decision making

E Begoli, T Bhattacharya, D Kusnezov - Nature Machine Intelligence, 2019 - nature.com
Medicine, even from the earliest days of artificial intelligence (AI) research, has been one of
the most inspiring and promising domains for the application of AI-based approaches …