Multi-ancestry eQTL meta-analysis of human brain identifies candidate causal variants for brain-related traits

B Zeng, J Bendl, R Kosoy, JF Fullard, GE Hoffman… - Nature …, 2022 - nature.com
While large-scale, genome-wide association studies (GWAS) have identified hundreds of
loci associated with brain-related traits, identification of the variants, genes and molecular …

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases

N de Klein, EA Tsai, M Vochteloo, D Baird, Y Huang… - Nature …, 2023 - nature.com
Identification of therapeutic targets from genome-wide association studies (GWAS) requires
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …

Landscape of conditional eQTL in dorsolateral prefrontal cortex and co-localization with schizophrenia GWAS

A Dobbyn, LM Huckins, J Boocock, LG Sloofman… - The American Journal of …, 2018 - cell.com
Causal genes and variants within genome-wide association study (GWAS) loci can be
identified by integrating GWAS statistics with expression quantitative trait loci (eQTL) and …

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

F Hormozdiari, S Gazal, B Van De Geijn, HK Finucane… - Nature …, 2018 - nature.com
There is increasing evidence that many risk loci found using genome-wide association
studies are molecular quantitative trait loci (QTLs). Here we introduce a new set of functional …

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

E Mountjoy, EM Schmidt, M Carmona… - Nature …, 2021 - nature.com
Genome-wide association studies (GWASs) have identified many variants associated with
complex traits, but identifying the causal gene (s) is a major challenge. In the present study …

Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues

AA Brown, A Vinuela, O Delaneau, TD Spector… - Nature …, 2017 - nature.com
Genetic association mapping produces statistical links between phenotypes and genomic
regions, but identifying causal variants remains difficult. Whole-genome sequencing (WGS) …

A meta-analysis of gene expression quantitative trait loci in brain

Y Kim, K Xia, R Tao, P Giusti-Rodriguez… - Translational …, 2014 - nature.com
Current catalogs of brain expression quantitative trait loci (eQTL) are incomplete and the
findings do not replicate well across studies. All existing cortical eQTL studies are small and …

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

J Bryois, D Calini, W Macnair, L Foo, E Urich… - Nature …, 2022 - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

Gene expression elucidates functional impact of polygenic risk for schizophrenia

M Fromer, P Roussos, SK Sieberts, JS Johnson… - Nature …, 2016 - nature.com
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …

Estimating the causal tissues for complex traits and diseases

H Ongen, AA Brown, O Delaneau, NI Panousis… - Nature …, 2017 - nature.com
How to interpret the biological causes underlying the predisposing markers identified
through genome-wide association studies (GWAS) remains an open question. One direct …