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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SNP@Evolution: a hierarchical database of positive selection on the human genome.
PMID 19732458 · PMC2755008 · BMC evolutionary biology · 2009 · 7 claims · 6 setups
SNP@Evolution is a hierarchical database integrating HET, FST, and iHS from HapMap Phase II and III to identify genome-wide positive selection signals
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CHEK2 variants associate with hereditary prostate cancer.
PMID 14612911 · PMC2394451 · British journal of cancer · 2003 · 8 claims · 6 setups
CHEK2 1100delC frameshift mutation is significantly more frequent in Finnish HPC patients than in population controls
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Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource.
PMID 16507150 · PMC1413975 · Breast cancer research : BCR · 2006 · 6 claims · 7 setups
kConFab is a collaborative resource providing epidemiological, clinical, and biospecimen data from high-risk familial breast/ovarian cancer families, available to researchers worldwide for ethically approved, peer-reviewed projects.
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Distinctive pattern of sequence polymorphism in the NS3 protein of hepatitis C virus type 1b reflects conflicting evolutionary pressures.
PMID 18632963 · PMC2577380 · The Journal of general virology · 2008 · 7 claims · 6 setups
NS3 shows less evidence of purifying selection acting on its CTL epitopes than the other 9 HCV proteins, while outside the CTL epitopes NS3 is more conserved than the other proteins.
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SNPAnalyzer: a web-based integrated workbench for single-nucleotide polymorphism analysis.
PMID 15980517 · PMC1160189 · Nucleic acids research · 2005 · 8 claims · 4 setups
SNPAnalyzer is an integrated web-based workbench that performs four statistical SNP analyses (Hardy-Weinberg equilibrium, haplotype estimation, linkage disequilibrium, and QTL analysis) in one common computational environment.
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Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
PMID 16597330 · PMC1456953 · BMC medical genetics · 2006 · 8 claims · 5 setups
Three novel RP1 truncating mutations (Gln686Ter, Lys705fsX712, Lys722fsX737) cause adRP
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Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.
PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups
HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals
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Novel integrative genomics strategies to identify genes for complex traits.
PMID 16886998 · PMC2367618 · Animal genetics · 2006 · 8 claims · 7 setups
Forward genetics is restricted to genes harboring mutations, systematically missing network genes that causally influence disease without themselves being mutated.
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Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes.
PMID 18567820 · PMC2518507 · Diabetes · 2008 · 8 claims · 5 setups
CDC123/CAMK1D rs12779790 risk allele (homozygous) is associated with decreased insulinogenic index, corrected insulin response (CIR), and AUC-insulin/AUC-glucose ratio, indicating impaired insulin release
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Intrinsic genetic characteristics determine tumor-modifying capacity of fibroblasts: matrix metalloproteinase-3 5A/5A genotype enhances breast cancer cell invasion.
PMID 17922906 · PMC2242664 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Tumor-derived fibroblasts promote higher levels of breast cancer cell invasion than normal fibroblasts
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.
PMID 16923191 · PMC1559722 · Cardiovascular ultrasound · 2006 · 7 claims · 4 setups
ecNOS4a/b gene polymorphism is not associated with hypertension in Turkish patients
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A potentially deleterious new CYP2C9 polymorphism identified in an African American patient with major hemorrhage on warfarin therapy.
PMID 19083245 · PMC2662477 · Blood cells, molecules & diseases · 2009 · 7 claims · 4 setups
A new CYP2C9 coding polymorphism, G1078A (D360N) in exon 7, was identified in an African American patient who experienced major gastrointestinal hemorrhage on warfarin therapy
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CNGA3 mutations in two United Arab Emirates families with achromatopsia.
PMID 18636117 · PMC2464613 · Molecular vision · 2008 · 8 claims · 5 setups
Achromatopsia in two UAE families is caused by mutations in CNGA3: Arg283Trp and Gly397Val
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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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Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.
PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups
Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts
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Predicting phenotype and emerging strains among Chlamydia trachomatis infections.
PMID 19788805 · PMC2819883 · Emerging infectious diseases · 2009 · 8 claims · 7 setups
A 7-locus MLST scheme selected from conserved housekeeping genes shared across 4 Chlamydiaceae species (7 genomes) can genotype diverse C. trachomatis reference and clinical isolates.
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Cannabinoid type-1 receptor gene polymorphisms are associated with central obesity in a Southern Brazilian population.
PMID 18776593 · PMC3827795 · Disease markers · 2008 · 8 claims · 5 setups
The CNR1 4895G allele is associated with waist-to-hip ratio (WHR)
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Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
PMID 18544707 · PMC2518503 · Diabetes · 2008 · 8 claims · 4 setups
None of the selected GWAS-identified SNPs individually were associated with increased diabetes incidence in the DPP cohort
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Has reproduction · 55
Genome-Wide Survey and Development of the First Microsatellite Markers Database (AnCorDB) in Anemone coronaria L.
PMID 35328546 · PMC8949970 · International journal of molecular sciences · 2022 · 8 claims · 8 setups
Generated the first draft genome assembly of A. coronaria by Illumina sequencing a haploid androgenetic plant