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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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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Evolutionarily conserved and diverged alternative splicing events show different expression and functional profiles.
PMID 16195578 · PMC1240112 · Nucleic acids research · 2005 · 8 claims · 5 setups
Alternative splices in 10,818 human-mouse gene pairs can be classified as conserved, novel, or diverged based on genomic and transcript-level cross-species comparison.
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Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups
TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI
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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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Genome informatics: taming the avalanche of genomic data.
PMID 15642109 · PMC549058 · Genome biology · 2005 · 8 claims · 7 setups
Ultraconserved regions (>100 bp, 100% conserved among mammals) exist in the genome and their function remains unknown
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Target SNP selection in complex disease association studies.
PMID 15248903 · PMC487897 · BMC bioinformatics · 2004 · 7 claims · 3 setups
A computational pipeline can retrieve gene sequence, collect SNP variation data, and annotate SNPs falling in functional motifs (promoter, exon-intron structure, AU-rich elements, TF binding sites, splice sites) with expression in target tissue
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Phylogenetic variation and polymorphism at the toll-like receptor 4 locus (TLR4).
PMID 11104518 · PMC31919 · Genome biology · 2000 · 7 claims · 7 setups
The Tlr4 extracellular domain is far more variable than the cytoplasmic domain, both among mouse strains and among species
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Pairagon+N-SCAN_EST: a model-based gene annotation pipeline.
PMID 16925839 · PMC1810554 · Genome biology · 2006 · 7 claims · 5 setups
Pairagon+N-SCAN_EST, using only native alignments, was as accurate as ENSEMBL and ExoGean in the EGASP mRNA/EST evidence assessment
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Functional importance of different patterns of correlation between adjacent cassette exons in human and mouse.
PMID 18439302 · PMC2432081 · BMC genomics · 2008 · 8 claims · 7 setups
Adjacent cassette exon pairs can be categorized by EST-derived correlation coefficient into three groups: mutually exclusive (ME, r<=-0.7), independent (IND, -0.2<=r<=0.2), and linked (LNK, r>=0.7)
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Genome Network and FANTOM3: assessing the complexity of the transcriptome.
PMID 16683037 · PMC1449904 · PLoS genetics · 2006 · 8 claims · 7 setups
63% of the genome is transcribed from at least one strand, versus the earlier belief that only 2% is transcribed into protein-coding mRNA
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H-DBAS: human-transcriptome database for alternative splicing: update 2010.
PMID 19969536 · PMC2808982 · Nucleic acids research · 2010 · 8 claims · 4 setups
RNA-Seq tags from the polysome fraction identify AS exons that are very likely used for protein synthesis
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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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Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.
PMID 19023448 · PMC2584772 · Molecular vision · 2008 · 8 claims · 7 setups
Mutations in USH2A are responsible for most cases of USH2