Genetics of diabetes mellitus and diabetes complications

JB Cole, JC Florez - Nature reviews nephrology, 2020 - nature.com
Diabetes is one of the fastest growing diseases worldwide, projected to affect 693 million
adults by 2045. Devastating macrovascular complications (cardiovascular disease) and …

[HTML][HTML] Genetics of attention deficit hyperactivity disorder

SV Faraone, H Larsson - Molecular psychiatry, 2019 - nature.com
Decades of research show that genes play an vital role in the etiology of attention deficit
hyperactivity disorder (ADHD) and its comorbidity with other disorders. Family, twin, and …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions

DM Howard, MJ Adams, TK Clarke, JD Hafferty… - Nature …, 2019 - nature.com
Major depression is a debilitating psychiatric illness that is typically associated with low
mood and anhedonia. Depression has a heritable component that has remained difficult to …

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin… - Science, 2021 - science.org
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Partitioning heritability by functional annotation using genome-wide association summary statistics

HK Finucane, B Bulik-Sullivan, A Gusev, G Trynka… - Nature …, 2015 - nature.com
Recent work has demonstrated that some functional categories of the genome contribute
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …

Integrative approaches for large-scale transcriptome-wide association studies

A Gusev, A Ko, H Shi, G Bhatia, W Chung… - Nature …, 2016 - nature.com
Many genetic variants influence complex traits by modulating gene expression, thus altering
the abundance of one or multiple proteins. Here we introduce a powerful strategy that …

10 years of GWAS discovery: biology, function, and translation

PM Visscher, NR Wray, Q Zhang, P Sklar… - The American Journal of …, 2017 - cell.com
Application of the experimental design of genome-wide association studies (GWASs) is now
10 years old (young), and here we review the remarkable range of discoveries it has …

Integrative omics for health and disease

KJ Karczewski, MP Snyder - Nature Reviews Genetics, 2018 - nature.com
Advances in omics technologies—such as genomics, transcriptomics, proteomics and
metabolomics—have begun to enable personalized medicine at an extraordinarily detailed …

Regulatory genomic circuitry of human disease loci by integrative epigenomics

CA Boix, BT James, YP Park, W Meuleman, M Kellis - Nature, 2021 - nature.com
Annotating the molecular basis of human disease remains an unsolved challenge, as 93%
of disease loci are non-coding and gene-regulatory annotations are highly incomplete …