The post-GWAS era: from association to function
MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
Where are the disease-associated eQTLs?
Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …
have detectable effects on gene expression. One explanation could be that we have not …
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power
Admixed populations are routinely excluded from genomic studies due to concerns over
population structure. Here, we present a statistical framework and software package, Tractor …
population structure. Here, we present a statistical framework and software package, Tractor …
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
MA Ferreira, JM Vonk, H Baurecht, I Marenholz… - Nature …, 2017 - nature.com
Asthma, hay fever (or allergic rhinitis) and eczema (or atopic dermatitis) often coexist in the
same individuals, partly because of a shared genetic origin,,. To identify shared risk variants …
same individuals, partly because of a shared genetic origin,,. To identify shared risk variants …
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases
Identification of therapeutic targets from genome-wide association studies (GWAS) requires
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …
insights into downstream functional consequences. We harmonized 8,613 RNA-sequencing …
Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs
Genome-wide association studies have identified thousands of genetic variants that are
associated with disease. Most of these variants have small effect sizes, but their downstream …
associated with disease. Most of these variants have small effect sizes, but their downstream …
Identification of context-dependent expression quantitative trait loci in whole blood
Genetic risk factors often localize to noncoding regions of the genome with unknown effects
on disease etiology,. Expression quantitative trait loci (eQTLs) help to explain the regulatory …
on disease etiology,. Expression quantitative trait loci (eQTLs) help to explain the regulatory …
Beyond GWASs: illuminating the dark road from association to function
Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …
variation contributing to normal and pathological traits and clinical drug responses, but …
The single-cell eQTLGen consortium
In recent years, functional genomics approaches combining genetic information with bulk
RNA-sequencing data have identified the downstream expression effects of disease …
RNA-sequencing data have identified the downstream expression effects of disease …
Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application
Alzheimer's disease (AD) is the most common form of dementia, characterized by
progressive cognitive impairment and neurodegeneration. Extensive clinical and genomic …
progressive cognitive impairment and neurodegeneration. Extensive clinical and genomic …