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 …

Advancing the use of genome-wide association studies for drug repurposing

WR Reay, MJ Cairns - Nature Reviews Genetics, 2021 - nature.com
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …

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 …

Cross-trait assortative mating is widespread and inflates genetic correlation estimates

R Border, G Athanasiadis, A Buil, AJ Schork, N Cai… - Science, 2022 - science.org
The observation of genetic correlations between disparate human traits has been
interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative …

A global overview of pleiotropy and genetic architecture in complex traits

K Watanabe, S Stringer, O Frei, M Umićević Mirkov… - Nature …, 2019 - nature.com
After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …

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 …

Engineering triangular carbon quantum dots with unprecedented narrow bandwidth emission for multicolored LEDs

F Yuan, T Yuan, L Sui, Z Wang, Z Xi, Y Li, X Li… - Nature …, 2018 - nature.com
Carbon quantum dots (CQDs) have emerged as promising materials for optoelectronic
applications on account of carbon's intrinsic merits of high stability, low cost, and …

[HTML][HTML] 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 …

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 …