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 …

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 …

Map** genomic loci prioritises genes and implicates synaptic biology in schizophrenia

Schizophrenia Working Group of the Psychiatric … - MedRxiv, 2020 - medrxiv.org
Schizophrenia is a psychiatric disorder whose pathophysiology is largely unknown. It has a
heritability of 60-80%, much of which is attributable to common risk alleles, suggesting …

From genome-wide associations to candidate causal variants by statistical fine-map**

DJ Schaid, W Chen, NB Larson - Nature Reviews Genetics, 2018 - nature.com
Advancing from statistical associations of complex traits with genetic markers to
understanding the functional genetic variants that influence traits is often a complex process …

Genetic map** across autoimmune diseases reveals shared associations and mechanisms

MR Lincoln, N Connally, PP Axisa, C Gasperi… - Nature …, 2024 - nature.com
Autoimmune and inflammatory diseases are polygenic disorders of the immune system.
Many genomic loci harbor risk alleles for several diseases, but the limited resolution of …

Fine-map** inflammatory bowel disease loci to single-variant resolution

H Huang, M Fang, L Jostins, M Umićević Mirkov… - Nature, 2017 - nature.com
Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect
millions of people worldwide. Genome-wide association studies have identified 200 …

Interpreting non-coding disease-associated human variants using single-cell epigenomics

KJ Gaulton, S Preissl, B Ren - Nature Reviews Genetics, 2023 - nature.com
Genome-wide association studies (GWAS) have linked hundreds of thousands of sequence
variants in the human genome to common traits and diseases. However, translating this …

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

N Shrine, AL Guyatt, AM Erzurumluoglu, VE Jackson… - Nature …, 2019 - nature.com
Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive
pulmonary disease (COPD). In a genome-wide association study in 400,102 individuals of …

Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power

EG Atkinson, AX Maihofer, M Kanai, AR Martin… - Nature …, 2021 - nature.com
Admixed populations are routinely excluded from genomic studies due to concerns over
population structure. Here, we present a statistical framework and software package, Tractor …

Dissecting the genetics of complex traits using summary association statistics

B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …