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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Angiotensin-converting enzyme gene insertion/deletion polymorphism in migraine patients.
PMID 18366776 · PMC2311324 · BMC neurology · 2008 · 6 claims · 3 setups
ACE I/D genotype and allele distributions do not differ significantly between migraine patients and controls
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TP53 intron 6 polymorphism and the risk of ovarian and breast cancer.
PMID 9484829 · PMC2149940 · British journal of cancer · 1998 · 5 claims · 2 setups
The N' allele (G-to-A variant) is significantly more prevalent in ovarian cancer patients than in controls (P=0.01)
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Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish.
PMID 16515697 · PMC1448207 · BMC medical genetics · 2006 · 8 claims · 7 setups
CMS compares IBS allele/genotype sharing between distantly related (beyond grandparental) affected and unaffected individuals from founder populations to detect disease loci while reducing confounding from population stratification and genetic heterogeneity.
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Detection of chromosomal structural alterations in single cells by SNP arrays: a systematic survey of amplification bias and optimized workflow.
PMID 18074030 · PMC2111048 · PloS one · 2007 · 8 claims · 7 setups
MDA-based single-cell whole-genome amplification (S-WGA) products show large variability in amplification bias, including allele dropout and preferential amplification.
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The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.
PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups
No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls
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Alcohol consumption and breast tumor mitochondrial DNA mutations.
PMID 19847642 · PMC4403627 · Breast cancer research and treatment · 2010 · 8 claims · 6 setups
Somatic mtDNA mutations are a frequent occurrence in breast tumors
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The spectrum of ATM missense variants and their contribution to contralateral breast cancer.
PMID 17393301 · PMC2137941 · Breast cancer research and treatment · 2008 · 6 claims · 3 setups
ATM missense variant frequency does not differ significantly between CBC and UBC patients, indicating no major impact on overall CBC risk
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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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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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Polymorphic repeat in AIB1 does not alter breast cancer risk.
PMID 11056690 · PMC13920 · Breast cancer research : BCR · 2000 · 7 claims · 3 setups
AIB1 alleles with 26 or fewer glutamine repeats are not associated with increased breast cancer risk in the general population
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The use of proteomics in biomarker discovery in neurodegenerative diseases.
PMID 15920295 · PMC3850612 · Disease markers · 2005 · 8 claims · 8 setups
A combination of low CSF-β-amyloid(1-42) with high CSF-tau and high CSF-phospho-tau is associated with an AD diagnosis
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Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations.
PMID 17640344 · PMC1939985 · BMC medical genetics · 2007 · 8 claims · 5 setups
Significant differences in 3'APOB-VNTR allele and genotype frequencies exist between Hei Yi Zhuang and Han populations
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Proteomics of human neurodegenerative diseases.
PMID 18800015 · PMC2710115 · Journal of neuropathology and experimental neurology · 2008 · 8 claims · 8 setups
Proteomic techniques applied to autopsy brain and CSF from patients with neurodegenerative diseases provide insight into pathogenesis and enable biomarker discovery
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Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations.
PMID 18694524 · PMC2525636 · BMC biotechnology · 2008 · 8 claims · 4 setups
The mismatch-specific endonuclease method achieved 100% sensitivity and specificity for identifying HBB gene mutations in the study sample.
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V-MitoSNP: visualization of human mitochondrial SNPs.
PMID 16907992 · PMC1564046 · BMC bioinformatics · 2006 · 6 claims · 4 setups
V-MitoSNP integrates RFLP genotyping information with mitochondria-related cancer/disease data in a user-friendly, interactive, color-coded visual web interface
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Evaluating the performance of Affymetrix SNP Array 6.0 platform with 400 Japanese individuals.
PMID 18803882 · PMC2566316 · BMC genomics · 2008 · 8 claims · 5 setups
About 20% of the 909,622 SNPs on the SNP Array 6.0 are monomorphic in the Japanese population
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Genomic variability within an organism exposes its cell lineage tree.
PMID 16261192 · PMC1274291 · PLoS computational biology · 2005 · 8 claims · 5 setups
Somatic mutations accumulated during normal development implicitly encode an organism's entire cell lineage tree with very high precision.
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Concurrent genotyping of Helicobacter pylori virulence genes and human cytokine SNP sites using whole genome amplified DNA derived from minute amounts of gastric biopsy specimen DNA.
PMID 18842150 · PMC2577186 · BMC microbiology · 2008 · 7 claims · 8 setups
MDA-amplified DNA from minute gastric biopsy specimens enables concurrent PCR-based genotyping of bacterial (H. pylori) and human host genes from a single DNA source
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The matrix metalloproteinase-3 (MMP-3) 5A/6A promoter polymorphism is not associated with ischaemic heart disease: analysis employing a family based approach.
PMID 15665388 · PMC3839324 · Disease markers · 2004 · 6 claims · 3 setups
The MMP-3 -1612 5A/6A polymorphism is not associated with ischaemic heart disease in an Irish population.
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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
PMID 15084222 · PMC419352 · BMC medical genetics · 2004 · 6 claims · 5 setups
DHPLC gene scanning of the CFTR gene increases the mutation detection rate compared to standard commercial mutation panel screening alone