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@ARTICLE{Aschenbrenner:257340,
author = {Aschenbrenner, Anna C and Bonaguro, Lorenzo},
title = {huva: {A} human variation analysis framework to predict
gene perturbation from population-scale multi-omics data.},
journal = {STAR Protocols},
volume = {4},
number = {2},
issn = {2666-1667},
address = {Amsterdam},
publisher = {Elsevier},
reportid = {DZNE-2023-00409},
pages = {102193},
year = {2023},
note = {CC BY-NC-ND},
abstract = {Variance of gene expression is intrinsic to any given
natural population. Here, we present a protocol to analyze
this variance using a conditional quasi loss- and
gain-of-function approach. The huva (human variation)
package takes advantage of population-scale multi-omics data
to infer gene function and the relationship between
phenotype and gene expression. We describe the steps for
setting up the huva workspace, formatting datasets,
performing huva experiments, and exporting data. For
complete details on the use and execution of this protocol,
please refer to Bonaguro et al. (2022).1.},
keywords = {Bioinformatics (Other) / Gene Expression (Other) /
Immunology (Other) / RNAseq (Other) / Systems Biology
(Other)},
cin = {AG Schultze / AG Aschenbrenner},
ddc = {600},
cid = {I:(DE-2719)1013038 / I:(DE-2719)5000082},
pnm = {352 - Disease Mechanisms (POF4-352) / 354 - Disease
Prevention and Healthy Aging (POF4-354)},
pid = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-354},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36964906},
pmc = {pmc:PMC10050770},
doi = {10.1016/j.xpro.2023.102193},
url = {https://pub.dzne.de/record/257340},
}