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ZENODO
Dataset . 2024
License: CC BY
Data sources: ZENODO
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
ZENODO
Dataset . 2025
License: CC BY
Data sources: ZENODO
ZENODO
Dataset . 2024
License: CC BY
Data sources: Datacite
ZENODO
Dataset . 2025
License: CC BY
Data sources: Datacite
ZENODO
Dataset . 2025
License: CC BY
Data sources: Datacite
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AbSplice-DNA (hg19)

Authors: Wagner, Nils; Çelik, Muhammed Hasan;

AbSplice-DNA (hg19)

Abstract

AbSplice-DNA predicts the probability that a variant causes aberrant splicing in a given tissue. See the publication: https://www.nature.com/articles/s41588-023-01373-3.Here, we provide precomputed AbSplice-DNA scores for 49 human tissues and all possible SNVs genome-wide for hg19. This version contains 19,810 protein coding genes. The folder 'AbSplice_DNA_hg19_snvs' contains all scores.The folder 'AbSplice_DNA_hg19_snvs_high_scores' contains scores above 3 different cutoffs, which have approximately the same recalls as the high, medium and low cutoffs of SpliceAI: high cutoff (0.2), medium cutoff (0.05), low cutoff (0.01). AbSplice scores are tissue-specific. In case users require a single score we recommend to use the maximum AbSplice score across tissues. AbSplice-DNA scores can be computed from custom VCF files (including indels) with the python package 'absplice': https://github.com/gagneurlab/absplice The uploaded files contain the following columns (for longer description see README of github repository of AbSplice): Genomic coordinates of the variant: chrom: Chromosome pos: genomic position ref: reference allele alt: alternative allele gene_id: Ensembl GeneID AbSplice_DNA_{tissue}: AbSplice score for the given tissue delta_logit_psi_{tissue}: MMSplice + SpliceMap score for a given tissue delta_psi_{tissue}: MMSplice + SpliceMap + Ψ_ref score for a given tissue splice_site_is_expressed_{tissue}: binary feature indicating if a splice site in the vicinity of the variant is expressed for a given tissue delta_score: SpliceAI Delta score (maximum of Delta score (acceptor/donor gain/loss)) AbSplice_DNA_max: maximum AbSplice score across tissues for the given variant (this score is only provided in the files of the folder 'AbSplice_DNA_hg19_snvs_high_scores') This dataset includes SpliceAI scores. The scores are free for academic and not-for-profit use; other use requires a commercial license from Illumina, Inc., see the GitHub repository of SpliceAI: https://github.com/Illumina/SpliceAI/tree/master

Keywords

splicing, AbSplice

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selected citations
These citations are derived from selected sources.
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).
BIP!Citations provided by BIP!
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.
BIP!Impulse provided by BIP!
0
Average
Average
Average