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 …

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 …

Gene–environment correlations across geographic regions affect genome-wide association studies

A Abdellaoui, CV Dolan, KJH Verweij, MG Nivard - Nature genetics, 2022 - nature.com
Gene–environment correlations affect associations between genetic variants and complex
traits in genome-wide association studies (GWASs). Here we showed in up to 43,516 British …

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 …

Iterative usage of fixed and random effect models for powerful and efficient genome-wide association studies

X Liu, M Huang, B Fan, ES Buckler, Z Zhang - PLoS genetics, 2016 - journals.plos.org
False positives in a Genome-Wide Association Study (GWAS) can be effectively controlled
by a fixed effect and random effect Mixed Linear Model (MLM) that incorporates population …

BLINK: a package for the next level of genome-wide association studies with both individuals and markers in the millions

M Huang, X Liu, Y Zhou, RM Summers, Z Zhang - Gigascience, 2019 - academic.oup.com
Big datasets, accumulated from biomedical and agronomic studies, provide the potential to
identify genes that control complex human diseases and agriculturally important traits …

Genetic architecture: the shape of the genetic contribution to human traits and disease

NJ Timpson, CMT Greenwood, N Soranzo… - Nature Reviews …, 2018 - nature.com
Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …

Human genetics shape the gut microbiome

JK Goodrich, JL Waters, AC Poole, JL Sutter, O Koren… - Cell, 2014 - cell.com
Host genetics and the gut microbiome can both influence metabolic phenotypes. However,
whether host genetic variation shapes the gut microbiome and interacts with it to affect host …

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

JC Denny, L Bastarache, MD Ritchie, RJ Carroll… - Nature …, 2013 - nature.com
Candidate gene and genome-wide association studies (GWAS) have identified genetic
variants that modulate risk for human disease; many of these associations require further …

Enhancer–promoter interactions are encoded by complex genomic signatures on looping chromatin

S Whalen, RM Truty, KS Pollard - Nature genetics, 2016 - nature.com
Discriminating the gene target of a distal regulatory element from other nearby transcribed
genes is a challenging problem with the potential to illuminate the causal underpinnings of …