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001     303376
005     20250807114414.0
024 7 _ |a 10.1038/s41598-025-08808-3
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037 _ _ |a DKFZ-2025-01625
041 _ _ |a English
082 _ _ |a 600
100 1 _ |a Korshevniuk, Maryna
|b 0
245 _ _ |a Optimized summary-statistic-based single-cell eQTL meta-analysis.
260 _ _ |a [London]
|c 2025
|b Springer Nature
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520 _ _ |a 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.
536 _ _ |a 312 - Funktionelle und strukturelle Genomforschung (POF4-312)
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588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
650 _ 7 |a Weighted meta-analysis
|2 Other
650 _ 7 |a eQTL
|2 Other
650 _ 7 |a scRNA-seq
|2 Other
650 _ 2 |a Quantitative Trait Loci
|2 MeSH
650 _ 2 |a Single-Cell Analysis: methods
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Sequence Analysis, RNA
|2 MeSH
700 1 _ |a Westra, Harm-Jan
|b 1
700 1 _ |a Oelen, Roy
|b 2
700 1 _ |a van der Wijst, Monique G P
|b 3
700 1 _ |a Franke, Lude
|b 4
700 1 _ |a Bonder, Marc Jan
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700 1 _ |a Consortium, sc-eQTLGen
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700 1 _ |a Alquicira-Hernández, José
|b 7
|e Contributor
700 1 _ |a Kaptijn, Daniel
|b 8
|e Contributor
700 1 _ |a Korshevniuk, Maryna
|b 9
|e Contributor
700 1 _ |a Lee, Jimmy Tsz Hang
|b 10
|e Contributor
700 1 _ |a Michielsen, Lieke
|b 11
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700 1 _ |a Neavin, Drew
|b 12
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700 1 _ |a Oelen, Roy
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700 1 _ |a Ripoll-Cladellas, Aida
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700 1 _ |a Vochterloo, Martijn
|b 15
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700 1 _ |a Ando, Yoshinari
|b 16
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700 1 _ |a Bayaraa, Odmaa
|b 17
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700 1 _ |a van Blokland, Irene
|b 18
|e Contributor
700 1 _ |a Dieng, Mame M
|b 19
|e Contributor
700 1 _ |a Gordon, M Grace
|b 20
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700 1 _ |a Groot, Hilde E
|b 21
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700 1 _ |a van der Harst, Pim
|b 22
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700 1 _ |a Hon, Chung-Chau
|b 23
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700 1 _ |a Idaghdour, Youssef
|b 24
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700 1 _ |a Manikanda, Vinu
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700 1 _ |a Moody, Jonathan
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700 1 _ |a Nawijn, Martijn C
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700 1 _ |a Okada, Yukinori
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700 1 _ |a Stegle, Oliver
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700 1 _ |a Park, Woong-Yang
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700 1 _ |a Rajagopalan, Deepa
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700 1 _ |a Shahin, Tala
|b 32
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700 1 _ |a Shin, Jay W
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700 1 _ |a Trynka, Gosia
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700 1 _ |a Westra, Harm-Jan
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700 1 _ |a Yazar, Seyhan
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700 1 _ |a Ye, Jimmie
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700 1 _ |a Hemberg, Martin
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700 1 _ |a Mahfouz, Ahmed
|b 39
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700 1 _ |a Melé, Marta
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700 1 _ |a Powell, Joseph E
|b 41
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700 1 _ |a Franke, Lude
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700 1 _ |a van der Wijst, Monique G P
|b 43
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700 1 _ |a Bonder, Marc Jan
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773 _ _ |a 10.1038/s41598-025-08808-3
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