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 …

[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic

EA Boyle, YI Li, JK Pritchard - Cell, 2017 - cell.com
A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …

[HTML][HTML] Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

CG Boer, K Hatzikotoulas, L Southam, L Stefánsdóttir… - Cell, 2021 - cell.com
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide
association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and …

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

MH Chen, LM Raffield, A Mousas, S Sakaue… - Cell, 2020 - cell.com
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …

Descriptive, predictive and explanatory personality research: Different goals, different approaches, but a shared need to move beyond the Big Few traits

R Mõttus, D Wood, DM Condon… - European Journal …, 2020 - journals.sagepub.com
We argue that it is useful to distinguish between three key goals of personality science—
description, prediction and explanation—and that attaining them often requires different …

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

SL Pulit, C Stoneman, AP Morris… - Human molecular …, 2019 - academic.oup.com
More than one in three adults worldwide is either overweight or obese. Epidemiological
studies indicate that the location and distribution of excess fat, rather than general adiposity …

Genetic architecture of 11 organ traits derived from abdominal MRI using deep learning

Y Liu, N Basty, B Whitcher, JD Bell, EP Sorokin… - Elife, 2021 - elifesciences.org
Cardiometabolic diseases are an increasing global health burden. While socioeconomic,
environmental, behavioural, and genetic risk factors have been identified, a better …

The MR-Base platform supports systematic causal inference across the human phenome

G Hemani, J Zheng, B Elsworth, KH Wade… - elife, 2018 - elifesciences.org
Results from genome-wide association studies (GWAS) can be used to infer causal
relationships between phenotypes, using a strategy known as 2-sample Mendelian …

The genetic architecture of the human cerebral cortex

KL Grasby, N Jahanshad, JN Painter, L Colodro-Conde… - Science, 2020 - science.org
INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities.
Variations in human cortical surface area and thickness are associated with neurological …

Analysis of shared heritability in common disorders of the brain

Brainstorm Consortium, V Anttila, B Bulik-Sullivan… - Science, 2018 - science.org
INTRODUCTION Brain disorders may exhibit shared symptoms and substantial
epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed …