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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A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site.
PMID 18694864 · PMC3124709 · Hormones (Athens, Greece) · 2008 · 5 claims · 3 setups
The COL1A1 3'UTR 4bp insertion polymorphism (A1/A2 alleles) is not associated with LDD in young male Greek subjects
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SNP500Cancer: a public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes.
PMID 16381944 · PMC1347513 · Nucleic acids research · 2006 · 7 claims · 4 setups
SNP500Cancer provides sequence and genotype assay information for candidate cancer-related SNPs to support molecular epidemiology and complex disease mapping studies
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Optimized mixed Markov models for motif identification.
PMID 16749929 · PMC1534070 · BMC bioinformatics · 2006 · 8 claims · 4 setups
OMiMa can incorporate more than NNSplice's pairwise dependencies
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Has reproduction · 50
Exploiting convergent phenotypes to derive a pan-cancer cisplatin response gene expression signature.
PMID 37076665 · PMC10115855 · NPJ precision oncology · 2023 · 8 claims · 8 setups
A convergent-phenotype-based seed gene/co-expression method can extract consensus gene expression signatures predictive of response to chemotherapeutic drugs in the GDSC database
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Abnormalities of the p53 MDM2 and DCC genes in human leiomyosarcomas.
PMID 8198970 · PMC1969417 · British journal of cancer · 1994 · 6 claims · 8 setups
A significant minority of leiomyosarcomas harbor p53 gene point mutations or deletions
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Genetic variation in Pneumocystis carinii isolates from different geographic regions: implications for transmission.
PMID 10827116 · PMC2640877 · Emerging infectious diseases · 2000 · 8 claims · 4 setups
Genotype frequency distribution patterns varied significantly by patient's place of diagnosis but not by place of birth
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Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.
PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups
I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients
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Genetic variants of Ehrlichia phagocytophila, Rhode Island and Connecticut.
PMID 11996680 · PMC3369764 · Emerging infectious diseases · 2002 · 7 claims · 6 setups
All 50 E. phagocytophila-positive samples from Bridgeport, CT (1996-1998) had 16S rRNA sequences identical to the human agent (EP-ha).
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Global genetic diversity of human metapneumovirus fusion gene.
PMID 15207075 · PMC3323143 · Emerging infectious diseases · 2004 · 8 claims · 6 setups
Phylogenetic analysis of the HMPV F gene identifies two main groups (A and B, 93%-96% amino acid identity) further divided into four subgroups (A1, A2, B1, B2)
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Molecular epidemiology of DFNB1 deafness in France.
PMID 15070423 · PMC385234 · BMC medical genetics · 2004 · 8 claims · 7 setups
35delG remains the most common pathogenic GJB2 mutation in the studied French (Languedoc Roussillon) population despite being less frequent than in other Mediterranean populations
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A common missense variant in BRCA2 predisposes to early onset breast cancer.
PMID 16280055 · PMC1410744 · Breast cancer research : BCR · 2005 · 7 claims · 4 setups
BRCA2 C5972T homozygosity (TT genotype) is rare but confers a roughly five-fold increased risk of breast cancer.
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Identification of disease causing loci using an array-based genotyping approach on pooled DNA.
PMID 16197552 · PMC1262713 · BMC genomics · 2005 · 8 claims · 5 setups
Pooling genomic DNA and genotyping on SNP microarrays accurately predicts allelic frequencies relative to individual genotyping
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Coxiella burnetii genotyping.
PMID 16102309 · PMC3320512 · Emerging infectious diseases · 2005 · 8 claims · 5 setups
Multispacer sequence typing (MST) is the first reliable method for typing Coxiella burnetii isolates
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PromoterPlot: a graphical display of promoter similarities by pattern recognition.
PMID 15980503 · PMC1160174 · Nucleic acids research · 2005 · 7 claims · 4 setups
PromoterPlot is a web-based tool that displays and processes TransFac transcription factor search results as an interactive SVG page
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Type 1 diabetes in the Spanish population: additional factors to class II HLA-DR3 and -DR4.
PMID 15842729 · PMC1097726 · BMC genomics · 2005 · 7 claims · 4 setups
The ancestral haplotype AH 18.2 (DR3-TNFa1b5) confers significantly increased T1D risk compared to other DR3-positive haplotypes in the Spanish population.
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Has reproduction · 95
Quantitative epigenetic co-variation in CpG islands and co-regulation of developmental genes.
PMID 23999385 · PMC6505400 · Scientific reports · 2013 · 8 claims · 8 setups
Four epigenetic modifications (DNA methylation, H3K4me2, H3K4me3, H3K27me3) in mouse CGIs undergo combinatorial variation (co-variation) across ESCs, NPCs and adult brain during neuron differentiation.
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11q13 amplification status and human papillomavirus in relation to p16 expression defines two distinct etiologies of head and neck tumours.
PMID 17003776 · PMC2360598 · British journal of cancer · 2006 · 8 claims · 7 setups
HPV-positive HNSCC tumours are significantly less likely to carry 11q13 amplification than HPV-negative tumours
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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups
Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations
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Predicting survival within the lung cancer histopathological hierarchy using a multi-scale genomic model of development.
PMID 16800721 · PMC1483910 · PLoS medicine · 2006 · 8 claims · 8 setups
Multi-scale genomic similarities exist between four human lung cancer subtypes and the developing mouse lung, and these similarities are prognostically meaningful.
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Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.
PMID 16764716 · PMC1586026 · BMC cancer · 2006 · 8 claims · 6 setups
The 9106C>T (Q2960X) and IVS16-2A>G BRCA2 mutations are recurrent in MBC families from North-East Italy and may reflect a founder effect.