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@ARTICLE{Korshevniuk:303376,
author = {M. Korshevniuk and H.-J. Westra and R. Oelen and M. G. P.
van der Wijst and L. Franke and M. J. Bonder$^*$},
collaboration = {s.-e. Consortium},
othercontributors = {J. Alquicira-Hernández and D. Kaptijn and M. Korshevniuk
and J. T. H. Lee and L. Michielsen and D. Neavin and R.
Oelen and A. Ripoll-Cladellas and M. Vochterloo and Y. Ando
and O. Bayaraa and I. van Blokland and M. M. Dieng and M. G.
Gordon and H. E. Groot and P. van der Harst and C.-C. Hon
and Y. Idaghdour and V. Manikanda and J. Moody and M. C.
Nawijn and Y. Okada and O. Stegle$^*$ and W.-Y. Park and D.
Rajagopalan and T. Shahin and J. W. Shin and G. Trynka and
H.-J. Westra and S. Yazar and J. Ye and M. Hemberg and A.
Mahfouz and M. Melé and J. E. Powell and L. Franke and M.
G. P. van der Wijst and M. J. Bonder},
title = {{O}ptimized summary-statistic-based single-cell e{QTL}
meta-analysis.},
journal = {Scientific reports},
volume = {15},
number = {1},
issn = {2045-2322},
address = {[London]},
publisher = {Springer Nature},
reportid = {DKFZ-2025-01625},
pages = {28407},
year = {2025},
abstract = {The identification of expression quantitative trait loci
(eQTLs) holds great potential to improve the interpretation
of disease-associated genetic variation. As many such
disease-associated variants act in a context-, tissue- or
even cell-type-specific manner, single-cell RNA-sequencing
(scRNA-seq) data is uniquely suitable for identifying the
specific cell type or context in which these genetic
variants act. However, due to the limited sample sizes in
single-cell studies, discovery of cell-type-specific eQTLs
is now limited. To improve power to detect such eQTLs,
large-scale joint analyses are needed. These are however,
complicated by privacy constraints due to sharing of
genotype data and the measurement and technical variety
across different scRNA-seq datasets as a result of
differences in mRNA capture efficiency, experimental
protocols, and sequencing strategies. A solution to these
issues is a federated weighted meta-analysis (WMA) approach
in which summary statistics are integrated using
dataset-specific weights. Here, we compare different
strategies and provide best practice recommendations for
eQTL WMA across scRNA-seq datasets.},
keywords = {Quantitative Trait Loci / Single-Cell Analysis: methods /
Humans / Sequence Analysis, RNA / Weighted meta-analysis
(Other) / eQTL (Other) / scRNA-seq (Other)},
cin = {B260},
ddc = {600},
cid = {I:(DE-He78)B260-20160331},
pnm = {312 - Funktionelle und strukturelle Genomforschung
(POF4-312)},
pid = {G:(DE-HGF)POF4-312},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40759673},
doi = {10.1038/s41598-025-08808-3},
url = {https://inrepo02.dkfz.de/record/303376},
}