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eQTLGen

eQTLGen is an international consortium dedicated to mapping the genetic regulation of gene expression through expression quantitative trait loci (eQTLs). The project focuses on tissues with substantial immune and blood-related activity, particularly whole blood, and brings together data from numerous cohorts to increase statistical power for identifying regulatory variants. The resulting resources aim to illuminate how genetic variation influences transcription and contributes to complex traits and diseases.

The consortium assembles genotype and RNA expression data from thousands of participants across multiple studies. Using

Data products from eQTLGen include summary statistics and an open data portal that enables researchers to

Since its inception, eQTLGen has produced large-scale maps of cis- and trans-eQTLs in blood and has influenced

standardized
analysis
pipelines,
it
conducts
eQTL
mapping
in
cis
(variants
near
a
gene)
and
trans
(distant
variants)
and
combines
results
through
meta-analysis.
Efforts
emphasize
careful
adjustment
for
confounders
such
as
population
structure,
technical
batch
effects,
and
cell-type
composition
to
improve
reliability
of
detected
associations.
query
variant–gene
expression
associations
and
to
perform
colocalization
and
integrative
analyses
with
genome-wide
association
study
(GWAS)
signals.
These
resources
support
investigations
into
the
genetic
architecture
of
gene
expression
and
facilitate
the
interpretation
of
GWAS
loci.
downstream
studies
that
prioritize
causal
genes
and
pathways
for
complex
diseases.
The
consortium
continues
to
expand
data
coverage,
promote
methodological
consistency,
and
collaborate
with
other
functional
genomics
resources
to
advance
understanding
of
genetic
regulation
of
expression.