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Machine-learning annotation of human splicing branchpoints

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/wrna.1140openalex-snapshot
Exon and intron definition in pre‐mRNA splicing
inferredcites →https://doi.org/10.1016/j.molmed.2012.06.006openalex-snapshot
Pre-mRNA splicing in disease and therapeutics
inferredcites →https://doi.org/10.1016/s0168-9525(03)00140-9openalex-snapshot
Human housekeeping genes are compact
inferredcites →https://doi.org/10.1038/gim.2013.176openalex-snapshot
In silico tools for splicing defect prediction: a survey from the viewpoint of end users
inferredcites →https://doi.org/10.1038/jhg.2016.23openalex-snapshot
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome
inferredcites →https://doi.org/10.1038/ng940openalex-snapshot
Selection for short introns in highly expressed genes
inferredcites →https://doi.org/10.1038/nrg3920openalex-snapshot
Machine learning applications in genetics and genomics
inferredcites →https://doi.org/10.1038/nrm3525openalex-snapshot
Alternative splicing: a pivotal step between eukaryotic transcription and translation
inferredcites →https://doi.org/10.1038/nsmb.2327openalex-snapshot
Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo
inferredcites →https://doi.org/10.1038/s41588-017-0004-9openalex-snapshot
Annotation-free quantification of RNA splicing using LeafCutter
inferredcites →https://doi.org/10.1073/pnas.89.1.281openalex-snapshot
The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.
inferredcites →https://doi.org/10.1089/1066527041410418openalex-snapshot
Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals
inferredcites →https://doi.org/10.1093/bioinformatics/bts635openalex-snapshot
STAR: ultrafast universal RNA-seq aligner
inferredcites →https://doi.org/10.1093/nar/gkn073openalex-snapshot
Human branch point consensus sequence is yUnAy
inferredcites →https://doi.org/10.1093/nar/gkp215openalex-snapshot
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
inferredcites →https://doi.org/10.1093/nar/gku1205openalex-snapshot
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
inferredcites →https://doi.org/10.1093/nar/gkv1157openalex-snapshot
Ensembl 2016
inferredcites →https://doi.org/10.1093/nar/gkv1222openalex-snapshot
ClinVar: public archive of interpretations of clinically relevant variants
inferredcites →https://doi.org/10.1093/nar/gkv1275openalex-snapshot
The UCSC Genome Browser database: 2016 update
inferredcites →https://doi.org/10.1101/094003openalex-snapshot
Machine-learning annotation of human splicing branchpoints
inferredcites →https://doi.org/10.1101/gr.097857.109openalex-snapshot
Detection of nonneutral substitution rates on mammalian phylogenies
inferredcites →https://doi.org/10.1101/gr.133744.111openalex-snapshot
Detecting differential usage of exons from RNA-seq data
inferredcites →https://doi.org/10.1101/gr.135350.111openalex-snapshot
GENCODE: The reference human genome annotation for The ENCODE Project
inferredcites →https://doi.org/10.1101/gr.182899.114openalex-snapshot
Genome-wide discovery of human splicing branchpoints
inferredcites →https://doi.org/10.1101/gr.185371.114openalex-snapshot
Widespread exon skipping triggers degradation by nuclear RNA surveillance in fission yeast
inferredcites →https://doi.org/10.1126/science.1262110openalex-snapshot
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
inferredcites →https://doi.org/10.1126/science.aaa0355openalex-snapshot
The human transcriptome across tissues and individuals
inferredcites →https://doi.org/10.1126/science.aac7041openalex-snapshot
Identification and characterization of essential genes in the human genome
inferredcites →https://doi.org/10.1126/science.aad9417openalex-snapshot
RNA splicing is a primary link between genetic variation and disease
inferredcites →https://doi.org/10.1146/annurev-biochem-060614-034242openalex-snapshot
Regulation of Alternative Splicing Through Coupling with Transcription and Chromatin Structure
inferredcites →https://doi.org/10.1186/1748-7188-6-26openalex-snapshot
ViennaRNA Package 2.0
inferredcites →https://doi.org/10.1371/journal.pcbi.1001016openalex-snapshot
Genome-Wide Association between Branch Point Properties and Alternative Splicing
inferredcites →https://doi.org/10.1371/journal.pone.0092209openalex-snapshot
Area under Precision-Recall Curves for Weighted and Unweighted Data
inferredcites →https://doi.org/10.47094/978-65-88958-06-3.337-openalex-snapshot
BRUXISMO DENTAL E SUA RELAÇÃO COM OS IMPACTOS PSICOSSOCIAIS DECORRENTES DA PANDEMIA DA COVID-19
inferredcites →https://doi.org/10.5281/zenodo.192173openalex-snapshot
betsig/branchpointer: branchpointer release v0.3

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1093/bioinformatics/btx727openalex-snapshot
Modeling positional effects of regulatory sequences with spline transformations increases prediction accuracy of deep neural networks
inferred← citeshttps://doi.org/10.1101/183889openalex-snapshot
Genomic basis for RNA alterations revealed by whole-genome analyses of 27 cancer types
inferred← citeshttps://doi.org/10.1101/2023.09.12.23295416openalex-snapshot
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease
inferred← citeshttps://doi.org/10.1186/s13073-025-01464-2openalex-snapshot
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
inferred← citeshttps://doi.org/10.1261/rna.066290.118openalex-snapshot
A sequence-based, deep learning model accurately predicts RNA splicing branchpoints
inferred← citeshttps://doi.org/10.1371/journal.pone.0178630openalex-snapshot
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
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