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Zieger_et al_Modified denovoLOBGOB pipeline

Authors: Zieger, Hanna K.; Weinhold, Leonie; Schmidt, Axel; Holtgrewe, Manuel; Juranek, Stefan A.; Siewert, Anna; Scheer, Annika B.; +9 Authors

Zieger_et al_Modified denovoLOBGOB pipeline

Abstract

This is a modified version of denovoLOBGOB1 to analyze transcription factor binding sites at regions of de novo mutations using position weight matrices from JASPAR 20202. This Zenodo repository contains R-Scripts for the analysis of transcription factor binding sites in datasets of de novo mutations (DNMs) which have been used for the analysis of DNMs in whole genome sequencing data (WGS) of trios with nonsyndromic cleft lip with or without cleft palate (nsCL/P)3. These R scripts are a modified version from denovoLOBGOB, previously denoted as denovoTF, original code available at GitHub: https://github.com/pjshort/denovoTF. 1 https://github.com/pjshort/denovoTF/blob/master/scripts/denovoLOBGOB.R denovoLOBGOB was used for Short et al., 2018 Short, P. J., McRae, J. F., Gallone, G., Sifrim, A., Won, H., Geschwind, D. H., Wright, C. F., Firth, H. V, FitzPatrick, D. R., Barrett, J. C., & Hurles, M. E. (2018). De novo mutations in regulatory elements in neurodevelopmental disorders. Nature, 555(7698), 611–616. https://doi.org/10.1038/nature25983 2 https://bioconductor.org/packages/release/data/annotation/html/JASPAR2020.html Fornes, O., Castro-Mondragon, J.A., Khan, A., van der Lee, R., Zhang, X., Richmond, P.A., Modi, B.P., Correard, S., Gheorghe, M., Baranašić, D., et al. (2019). JASPAR 2020: update of the open-access database of transcription factor binding profiles. Nucleic Acids Res. 48, D87–D92. 3 Zieger, H.K., Weinhold, L., Schmidt, A., Holtgrewe, M., Juranek, S.A., Siewert, A., Scheer, A.B., Thieme, F., Mangold, E., Ishorst, N., Brand, F.U., Welzenbach, J., Beule, D., Paeschke, K., Krawitz, P.M. & Ludwig, K.U., Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations, HGG Adv.

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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