[PDF][PDF] Probabilistic colocalization of genetic variants from complex and molecular traits: promise and limitations

A Hukku, M Pividori, F Luca, R Pique-Regi… - The American Journal of …, 2021 - cell.com
Colocalization analysis has emerged as a powerful tool to uncover the overlapping of causal
variants responsible for both molecular and complex disease phenotypes. The findings from …

[HTML][HTML] Delineating the genetic component of gene expression in major depression

L Dall'Aglio, CM Lewis, O Pain - Biological psychiatry, 2021 - Elsevier
Background Major depression (MD) is determined by a multitude of factors including genetic
risk variants that regulate gene expression. We examined the genetic component of gene …

[PDF][PDF] Joint analysis of GWAS and multi-omics QTL summary statistics reveals a large fraction of GWAS signals shared with molecular phenotypes

Y Wu, T Qi, NR Wray, PM Visscher, J Zeng, J Yang - Cell Genomics, 2023 - cell.com
Molecular quantitative trait loci (xQTLs) are often harnessed to prioritize genes or functional
elements underpinning variant-trait associations identified from genome-wide association …

The impact of non-additive genetic associations on age-related complex diseases

M Guindo-Martínez, R Amela, S Bonàs-Guarch… - Nature …, 2021 - nature.com
Genome-wide association studies (GWAS) are not fully comprehensive, as current strategies
typically test only the additive model, exclude the X chromosome, and use only one …

Massively parallel techniques for cataloguing the regulome of the human brain

KG Townsley, KJ Brennand, LM Huckins - Nature neuroscience, 2020 - nature.com
Complex brain disorders are highly heritable and arise from a complex polygenic risk
architecture. Many disease-associated loci are found in non-coding regions that house …

QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration

J Advani, PA Mehta, AR Hamel, S Mehrotra… - Nature …, 2024 - nature.com
DNA methylation provides a crucial epigenetic mark linking genetic variations to
environmental influence. We have analyzed array-based DNA methylation profiles of 160 …

meQTL mapping in the GENOA study reveals genetic determinants of DNA methylation in African Americans

L Shang, W Zhao, YZ Wang, Z Li, JJ Choi… - Nature …, 2023 - nature.com
Identifying genetic variants that are associated with variation in DNA methylation, an
analysis commonly referred to as methylation quantitative trait locus (meQTL) mapping, is an …

Systematic integrated analysis of genetic and epigenetic variation in diabetic kidney disease

X Sheng, C Qiu, H Liu, C Gluck… - Proceedings of the …, 2020 - National Acad Sciences
Poor metabolic control and host genetic predisposition are critical for diabetic kidney
disease (DKD) development. The epigenome integrates information from sequence …

Single-cell genomics meets human genetics

ASE Cuomo, A Nathan, S Raychaudhuri… - Nature Reviews …, 2023 - nature.com
Single-cell genomic technologies are revealing the cellular composition, identities and
states in tissues at unprecedented resolution. They have now scaled to the point that it is …

Integrating genetics and transcriptomics to study major depressive disorder: a conceptual framework, bioinformatic approaches, and recent findings

EM Hicks, C Seah, A Cote, S Marchese… - Translational …, 2023 - nature.com
Major depressive disorder (MDD) is a complex and heterogeneous psychiatric syndrome
with genetic and environmental influences. In addition to neuroanatomical and circuit-level …