Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Advances in the study of SR protein family.
PMID 15626328 · PMC5172405 · Genomics, proteomics & bioinformatics · 2003 · 8 claims · 8 setups
SR proteins promote assembly of the early splicesome via protein-protein interactions in their RS-domain that recruit components of the splicing machinery.
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Large-scale identification and characterization of alternative splicing variants of human gene transcripts using 56,419 completely sequenced and manually annotated full-length cDNAs.
PMID 16914452 · PMC1557807 · Nucleic acids research · 2006 · 8 claims · 8 setups
Analysis of 56,419 full-length cDNAs identified 6877 alternative splicing genes encoding 18,297 alternative splicing variants made of 37,670 exons.
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Defective splicing, disease and therapy: searching for master checkpoints in exon definition.
PMID 16855287 · PMC1524908 · Nucleic acids research · 2006 · 8 claims · 8 setups
Splicing-affecting genomic variations can account for up to 50% of mutations leading to gene dysfunction in some genes
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BIPASS: BioInformatics Pipeline Alternative Splicing Services.
PMID 17584795 · PMC1933140 · Nucleic acids research · 2007 · 8 claims · 4 setups
BIPASS offers two complementary services for alternative splicing (AS) research: BIPAS-SpliceDB, a queryable pre-computed AS data warehouse, and BIPAS-Align&Splice, an online pipeline for user-submitted sequences.
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ECgene: genome annotation for alternative splicing.
PMID 15608289 · PMC540072 · Nucleic acids research · 2005 · 8 claims · 5 setups
ECgene combines genome-based EST clustering with a graph-theoretic transcript assembly procedure to predict gene models including alternative splicing events.
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In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
PMID 16995940 · PMC1590028 · BMC genomics · 2006 · 8 claims · 6 setups
In silico ESE-prediction algorithms (ESEfinder, RescueESE, PESX) do not reliably predict actual in vivo splicing behavior of missense mutations
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Genome-wide survey of allele-specific splicing in humans.
PMID 18518984 · PMC2427040 · BMC genomics · 2008 · 8 claims · 5 setups
A genome-wide computational scan identified 30,977 SNPs located within predicted splicing regulatory sequences (donor sites, acceptor sites, branch points, and ESEs)
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Forseti: a mechanistic and predictive model of the splicing status of scRNA-seq reads.
PMID 38940130 · PMC11256924 · Bioinformatics (Oxford, England) · 2024 · 7 claims · 5 setups
Forseti is the first probabilistic model for resolving the splicing status of exonic scRNA-seq reads by scoring putative fragments linking read alignments to proximate priming sites
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Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
PMID 17576681 · PMC1934990 · Nucleic acids research · 2007 · 8 claims · 4 setups
Cryptic 5'ss are best predicted by computational algorithms that accommodate nucleotide dependencies (e.g., Markov model, maximum entropy, maximum dependence decomposition) rather than by weight-matrix models
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Alternative splicing and bioinformatic analysis of human U12-type introns.
PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups
The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells
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DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.
PMID 15608249 · PMC539965 · Nucleic acids research · 2005 · 5 claims · 8 setups
Comparative human-mouse genome analysis identifies conserved sequence tags (CSTs, >=70% identity over >=100bp) that frequently correspond to non-coding elements with putative regulatory or structural roles
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Intronic alternative splicing regulators identified by comparative genomics in nematodes.
PMID 16839192 · PMC1500816 · PLoS computational biology · 2006 · 8 claims · 6 setups
Conserved intronic elements flanking alternative exons occur more often than expected from total intron sequence, consistent with selective pressure for splicing regulation
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Computational analysis of splicing errors and mutations in human transcripts.
PMID 18194514 · PMC2234086 · BMC genomics · 2008 · 8 claims · 4 setups
Retained introns are significantly shorter than constitutively spliced introns
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Prediction and assessment of splicing alterations: implications for clinical testing.
PMID 18951448 · PMC2832470 · Human mutation · 2008 · 8 claims · 5 setups
Bioinformatic prediction alone is insufficient; in vitro analysis is needed to confirm or establish splicing aberrations for clinical variant classification
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Low conservation and species-specific evolution of alternative splicing in humans and mice: comparative genomics analysis using well-annotated full-length cDNAs.
PMID 18838389 · PMC2582632 · Nucleic acids research · 2008 · 7 claims · 8 setups
Although 86% of individual human exons are conserved in the mouse genome, only a small fraction (431/20392, ~2%) of human AS variants are perfectly conserved AS variants in mice.
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Expression of full-length p53 and its isoform Deltap53 in breast carcinomas in relation to mutation status and clinical parameters.
PMID 17054774 · PMC1636663 · Molecular cancer · 2006 · 7 claims · 7 setups
The alternative splice isoform Δp53 mRNA is co-expressed with full-length p53 mRNA in breast tumors and cell lines
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Does distance matter? Variations in alternative 3' splicing regulation.
PMID 17704130 · PMC2018619 · Nucleic acids research · 2007 · 8 claims · 7 setups
Alternative 3' splice sites can be distinguished from constitutive splice sites by a combination of sequence/conservation properties that vary depending on the distance between the splice sites.
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Systematic identification of pseudogenes through whole genome expression evidence profiling.
PMID 16945953 · PMC1636364 · Nucleic acids research · 2006 · 8 claims · 8 setups
Developed a novel bioinformatics method that identifies pseudogenes by profiling whole-genome transcript and protein expression evidence
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Biased exon/intron distribution of cryptic and de novo 3' splice sites.
PMID 16141195 · PMC1197134 · Nucleic acids research · 2005 · 7 claims · 5 setups
Cryptic 3'ss (from 3'YAG consensus mutations) are significantly more frequent in exons than in introns
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MutScreener: primer design tool for PCR-direct sequencing.
PMID 16845093 · PMC1538803 · Nucleic acids research · 2006 · 8 claims · 4 setups
MutScreener is a web-based application that automates PCR-direct sequencing assay design by annotating gene structure and designing PCR and sequencing primers.