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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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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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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Finding signals that regulate alternative splicing in the post-genomic era.
PMID 12429065 · PMC244920 · Genome biology · 2002 · 8 claims · 8 setups
Alternative splicing generates protein and regulatory diversity from a limited number of genes and modulates isoform levels in a cell-context-specific manner
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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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SVC: structured visualization of evolutionary sequence conservation.
PMID 15991338 · PMC1160265 · Nucleic acids research · 2005 · 7 claims · 5 setups
SVC aligns protein-coding sequences of orthologous gene pairs and maps them back onto their encoding exons/introns to generate a scaffold of conserved gene structure.
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Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.
PMID 17010193 · PMC1599749 · BMC cancer · 2006 · 8 claims · 4 setups
No germline deleterious mutations were identified in the ATR coding region among 54 non-BRCA1/2 high-risk French Canadian breast cancer cases.
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Has reproduction · 48
Rbfox2 controls autoregulation in RNA-binding protein networks.
PMID 24637117 · PMC3967051 · Genes & development · 2014 · 8 claims · 8 setups
Rbfox2 cross-regulates AS-NMD events within RNA-binding protein genes to alter their expression, tuning autoregulatory splicing networks and placing Rbfox2 at a critical node of a multilayer regulatory network.
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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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A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia.
PMID 18334930 · PMC2255027 · Molecular vision · 2008 · 7 claims · 5 setups
A novel heterozygous de novo PAX6 frameshift mutation (c.577_578insG, insG@Gly72) in exon 6 causes autosomal dominant aniridia with congenital cataract, nystagmus, and glaucoma in this family.
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With the finished human genome in hand, what next?
PMID 12844356 · PMC193627 · Genome biology · 2003 · 8 claims · 8 setups
Gene Ontology (GO) provides a syntax/query framework for functional classification of genes, expanding beyond E. coli origins into anatomy, pathology, and phenotype data.