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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Competitive enzymatic reaction to control allele-specific extensions.
PMID 15767273 · PMC1065263 · Nucleic acids research · 2005 · 6 claims · 7 setups
Protease-mediated allele-specific extension (PrASE) uses competition between polymerase activity and Proteinase K-mediated polymerase degradation to allow extension of perfectly matched primers while eliminating slower mismatched primer extension.
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COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups
COMP mutations were identified in 78% of families referred with PSACH
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Comparisons of substitution, insertion and deletion probes for resequencing and mutational analysis using oligonucleotide microarrays.
PMID 15722479 · PMC549431 · Nucleic acids research · 2005 · 7 claims · 4 setups
Two base deletion probes display the highest average hybridization specificity, followed by single base substitution, single base deletion, and single base insertion probes.
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Whole-genome experimental identification of insertion/deletion polymorphisms of interspersed repeats by a new general approach.
PMID 15673711 · PMC548376 · Nucleic acids research · 2005 · 8 claims · 6 setups
A new technique combining whole-genome selective PCR amplification and subtractive hybridization can experimentally identify polymorphic retroelement insertions without prior knowledge of RE evolutionary history or sequence
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Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension.
PMID 15661075 · PMC547905 · BMC medical genetics · 2005 · 8 claims · 7 setups
Heterozygous carriage of common βENaC/γENaC variants (G589S, i12-17CT, V546I) is significantly more prevalent in essential hypertension patients (9.2%) than in normotensive males (2.9%) or blood donors (3.0%)
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L1Base: from functional annotation to prediction of active LINE-1 elements.
PMID 15608246 · PMC539998 · Nucleic acids research · 2005 · 7 claims · 6 setups
L1Base is a database of putatively active LINE-1 insertions in human, mouse and rat genomes, containing FLI-L1s (intact in both ORFs), ORF2-L1s (intact ORF2, disrupted ORF1), and FLnI-L1s (full-length, >6000 bp, non-intact)
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Inparanoid: a comprehensive database of eukaryotic orthologs.
PMID 15608241 · PMC540061 · Nucleic acids research · 2005 · 8 claims · 4 setups
The Inparanoid algorithm identifies true ortholog clusters by seeding on reciprocal best-matching pairs, gathering inparalogs (post-speciation duplicates) while excluding outparalogs (pre-speciation duplicates)
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TRED: a Transcriptional Regulatory Element Database and a platform for in silico gene regulation studies.
PMID 15608156 · PMC539958 · Nucleic acids research · 2005 · 8 claims · 5 setups
TRED is a database collecting both cis-regulatory elements (promoters) and trans-regulatory elements (transcription factor binding/regulation data) with linked access.
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Towards alignment independent quantitative assessment of homology detection.
PMID 17205117 · PMC1762415 · PloS one · 2006 · 8 claims · 6 setups
The Fhom Estimator uses the prevalence of a conserved protein feature (X) in two protein sets to estimate the fraction of true homologs among paired proteins, independent of alignment quality.
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A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.
PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups
The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals
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Gene loss rate: a probabilistic measure for the conservation of eukaryotic genes.
PMID 17158152 · PMC1802574 · Nucleic acids research · 2007 · 8 claims · 8 setups
GLR is a novel maximum-likelihood measure of gene loss rate that probabilistically weighs all possible ancestral phyletic patterns rather than relying on a single parsimonious reconstruction.
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Coverage of whole proteome by structural genomics observed through protein homology modeling database.
PMID 17146617 · PMC1769342 · Journal of structural and functional genomics · 2006 · 8 claims · 7 setups
FAMSBASE, a homology-modeling database of whole-genome ORFs, currently covers about 50% of predicted ORFs (368,724 of 734,193) across 276 genomes with modeled 3D structures.
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PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease.
PMID 17135190 · PMC1747181 · Nucleic acids research · 2007 · 8 claims · 6 setups
PeroxisomeDB integrates the complete peroxisomal proteome of Homo sapiens and Saccharomyces cerevisiae into interrelated 'Genes', 'Functions', 'Metabolic pathways' and 'Diseases' sections with links to NCBI, ENSEMBL and UCSC
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Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups
The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.
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Tracing the origin of functional and conserved domains in the human proteome: implications for protein evolution at the modular level.
PMID 17090320 · PMC1654190 · BMC evolutionary biology · 2006 · 8 claims · 5 setups
HHpred (HMM-HMM comparison) detects remote homologs in the human proteome with higher sensitivity than hmmpfam (HMMER), giving 10% more functional domain coverage and 20% higher residue coverage against Pfam-A families.
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Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
PMID 17076561 · PMC1626556 · PLoS medicine · 2006 · 6 claims · 7 setups
Affected members of a previously genetically unsolved aHUS family carry a heterozygous CFH/CFHL1 hybrid gene (exons 1-21 from CFH, exons 22/23 from CFHL1)
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Genomic signatures of human versus avian influenza A viruses.
PMID 17073083 · PMC3294750 · Emerging infectious diseases · 2006 · 8 claims · 6 setups
52 validated 'species-associated' amino acid positions distinguish human from avian influenza A viruses
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The evolution and genomic landscape of CGB1 and CGB2 genes.
PMID 17055150 · PMC2599907 · Molecular and cellular endocrinology · 2007 · 8 claims · 5 setups
CGB1 and CGB2 arose via insertion of a DNA fragment (736/724 bp) replacing part of the ancestral hCGβ promoter and 5'-UTR, creating a novel exon 1 and causing a frameshift that produces a completely different 132-aa protein unrelated to hCGβ
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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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Design factors that influence PCR amplification success of cross-species primers among 1147 mammalian primer pairs.
PMID 17029642 · PMC1635982 · BMC genomics · 2006 · 8 claims · 7 setups
The number of index-species (IS) mismatches in a primer pair significantly reduces amplification success, with an estimated 6-8% decrease in success rate per additional mismatch.