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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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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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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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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ChimerDB--a knowledgebase for fusion sequences.
PMID 16381848 · PMC1347382 · Nucleic acids research · 2006 · 8 claims · 6 setups
ChimerDB integrates bioinformatics analysis of mRNA/EST sequences, manually collected literature data, and OMIM translocation data into a single fusion sequence knowledgebase
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Trans-natural antisense transcripts including noncoding RNAs in 10 species: implications for expression regulation.
PMID 18653530 · PMC2528163 · Nucleic acids research · 2008 · 8 claims · 7 setups
A new computational pipeline identifies trans-SAs using ESTs (not just mRNAs) across 10 animal species, improving coverage over prior methods
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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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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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Comprehensive splice-site analysis using comparative genomics.
PMID 16914448 · PMC1557818 · Nucleic acids research · 2006 · 8 claims · 6 setups
Over half a million splice sites were collected from five species (H. sapiens, M. musculus, D. melanogaster, C. elegans, A. thaliana) and classified into four main subtypes: U2-type GT-AG and GC-AG, and U12-type GT-AG and AT-AC.
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Modification of the Creator recombination system for proteomics applications--improved expression by addition of splice sites.
PMID 16519801 · PMC1421398 · BMC biotechnology · 2006 · 8 claims · 8 setups
The Creator Splice system (5' intron splicing) significantly increases protein expression levels compared to the standard Creator system
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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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SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis.
PMID 17338820 · PMC1839109 · BMC bioinformatics · 2007 · 6 claims · 4 setups
EVDB is a comprehensive, non-redundant relational database of known human splice variants built from NCBI Entrez Gene and Evidence Viewer data
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Designating eukaryotic orthology via processed transcription units.
PMID 18445630 · PMC2425467 · Nucleic acids research · 2008 · 8 claims · 5 setups
Existing ortholog databases discard/ignore alternative splicing via all-against-all protein comparisons, causing ambiguous ortholog calls and misclassification of AS isoforms as in-paralogs
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A genome-wide survey demonstrates widespread non-linear mRNA in expressed sequences from multiple species.
PMID 16237125 · PMC1258171 · Nucleic acids research · 2005 · 8 claims · 6 setups
A genome-wide computational survey identifies 245 genes in mammals (264 across six species) that produce RREO events in expressed sequences
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Non-EST based prediction of exon skipping and intron retention events using Pfam information.
PMID 16204458 · PMC1243800 · Nucleic acids research · 2005 · 7 claims · 5 setups
A novel ab initio method predicts exon skipping and intron retention events using only Pfam domain annotation, via a Viterbi-like dynamic programming algorithm applied to the Pfam alignment.
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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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Genomic structure and expression of Jmjd6 and evolutionary analysis in the context of related JmjC domain containing proteins.
PMID 18564434 · PMC2453528 · BMC genomics · 2008 · 8 claims · 6 setups
Jmjd6 has been misleadingly annotated as a transmembrane receptor for engulfment of apoptotic cells; recent evidence contradicts this transmembrane receptor function
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Automatic annotation of eukaryotic genes, pseudogenes and promoters.
PMID 16925832 · PMC1810547 · Genome biology · 2006 · 8 claims · 6 setups
Fgenesh++ gene prediction pipeline identifies 91% of coding nucleotides with 90% specificity
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Genome-wide in silico identification and analysis of cis natural antisense transcripts (cis-NATs) in ten species.
PMID 16849434 · PMC1524920 · Nucleic acids research · 2006 · 8 claims · 7 setups
A fast integrative in silico pipeline combining UniGene mRNA/EST mapping to GoldenPath genomes with CDS, poly(A) signal, poly(A) tail and splicing site evidence can reliably identify cis-NATs genome-wide across multiple species
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Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
PMID 17697348 · PMC2042502 · BMC genetics · 2007 · 8 claims · 5 setups
CTCE eliminates the need for laboratory optimization of separation conditions for each exonic target sequence.
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Pegasys: software for executing and integrating analyses of biological sequences.
PMID 15096276 · PMC406494 · BMC bioinformatics · 2004 · 8 claims · 7 setups
Pegasys is a flexible, modular, customizable software system for executing and integrating heterogeneous biological sequence analysis tools