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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Splicing bioinformatics to biology.
PMID 16732900 · PMC1779529 · Genome biology · 2006 · 8 claims · 8 setups
Mutually exclusive selection of Dscam exon 6 variants is governed by base pairing between a conserved intronic docking site and selector sequences adjacent to each alternative exon.
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Dcode.org anthology of comparative genomic tools.
PMID 15980535 · PMC1160116 · Nucleic acids research · 2005 · 8 claims · 7 setups
The dcode.org suite (zPicture, Mulan, eShadow, rVista 2.0, multiTF, Creme 2.0, ECR Browser) provides integrated tools for comparative genomic analysis and non-coding regulatory element discovery.
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Paircomp, FamilyRelationsII and Cartwheel: tools for interspecific sequence comparison.
PMID 15790396 · PMC1087472 · BMC bioinformatics · 2005 · 8 claims · 7 setups
Paircomp, FamilyRelationsII, and Cartwheel together form an integrated system for comparing, viewing, and managing analyses of BAC-sized (~100 kb) genomic sequence pairs.
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Highly individual methylation patterns of alternative glucocorticoid receptor promoters suggest individualized epigenetic regulatory mechanisms.
PMID 19004867 · PMC2602793 · Nucleic acids research · 2008 · 7 claims · 4 setups
Methylation patterns of the five GR promoters activated in PBMCs are highly variable between individuals.
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Patterns of evolutionary constraints on genes in humans.
PMID 18840274 · PMC2587479 · BMC evolutionary biology · 2008 · 7 claims · 6 setups
BaseDiver, a novel framework integrating GERP score and derived allele frequency (DAF) at nonsynonymous coding SNPs, can classify GO functional categories by patterns of evolutionary constraint
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Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.
PMID 18692127 · PMC3341170 · Genomics · 2008 · 8 claims · 7 setups
Autozygosity mapping identified a highly significant homozygous region on chromosome 13q14.11-q14.3 (Z/LOD=10.41)
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Comparative genomics of the syndecans defines an ancestral genomic context associated with matrilins in vertebrates.
PMID 16620374 · PMC1464127 · BMC genomics · 2006 · 8 claims · 6 setups
Syndecan-encoding sequences are present in Cnidaria and throughout the Bilateria, showing deep conservation of the family.
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A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
PMID 18978954 · PMC2576480 · Molecular vision · 2008 · 8 claims · 6 setups
A C>A transversion in exon 2 of CERKL (c.316C>A) causes a missense change p.R106S in the nuclear localization signal sequence (KLKRR) of the protein.
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A clustering property of highly-degenerate transcription factor binding sites in the mammalian genome.
PMID 16670430 · PMC1456330 · Nucleic acids research · 2006 · 8 claims · 7 setups
Highly-degenerate RE1 sites are significantly enriched in promoters of validated and putative REST target genes compared to control promoters
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The secrets of a functional synapse--from a computational and experimental viewpoint.
PMID 16723009 · PMC1810317 · BMC bioinformatics · 2006 · 8 claims · 8 setups
Kinesin motor proteins move cargo along axonal microtubules to the synapse, with cargo specificity determined by adaptor/linker proteins rather than lipid recognition
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Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups
Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy
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Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.
PMID 17557180 · PMC1998882 · Mammalian genome : official journal of the International Mammalian Genome Society · 2007 · 7 claims · 7 setups
A BAC transgene containing Prop1 completely rescues the Prop1 mutant (dwarf) phenotype, showing all necessary regulatory elements lie within the BAC
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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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Speeding disease gene discovery by sequence based candidate prioritization.
PMID 15766383 · PMC1274252 · BMC bioinformatics · 2005 · 7 claims · 8 setups
Disease genes (OMIM) differ significantly from non-disease genes in sequence-based features including gene/cDNA/protein size, exon number, homolog conservation, secretion signal, 3' UTR length, CpG islands, and distance to nearest gene.
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Comparative genomic analysis of Campylobacter jejuni associated with Guillain-Barré and Miller Fisher syndromes: neuropathogenic and enteritis-associated isolates can share high levels of genomic similarity.
PMID 17919333 · PMC2174954 · BMC genomics · 2007 · 8 claims · 4 setups
GBS/MFS strains are genomically heterogeneous, falling into about six major lineages rather than a single clonal group
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Identification and characterisation of the angiotensin converting enzyme-3 (ACE3) gene: a novel mammalian homologue of ACE.
PMID 17597519 · PMC1925091 · BMC genomics · 2007 · 7 claims · 7 setups
A novel single-domain ACE-like gene, ACE3, exists in mouse, rat, cow, dog and human genomes, located on the same chromosome downstream of ACE.
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Multiple whole genome alignments and novel biomedical applications at the VISTA portal.
PMID 17488840 · PMC1933192 · Nucleic acids research · 2007 · 8 claims · 4 setups
A novel multiple whole-genome alignment algorithm treats all genomes symmetrically, avoiding dependence on a single base/reference genome
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The UCSC Genome Browser Database: update 2009.
PMID 18996895 · PMC2686463 · Nucleic acids research · 2009 · 8 claims · 6 setups
The UCSC Genome Browser Database (GBD) is a publicly available, integrated collection of genome assembly sequences and annotations across many organisms, including extensive comparative-genomic resources.
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Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue.
PMID 16426447 · PMC1373649 · BMC medical genetics · 2006 · 7 claims · 4 setups
MSI status can be determined in the absence of proband non-tumor tissue by comparing tumor alleles to alleles carried by the proband's progenitors
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A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups
A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family