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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Genomic and phenotypic variation in epidemic-spanning Salmonella enterica serovar Enteritidis isolates.
PMID 19922635 · PMC2784474 · BMC microbiology · 2009 · 8 claims · 6 setups
S. Enteritidis isolates show a high degree of genetic homogeneity/uniformity across typing methods and CGH despite geographic, temporal and source differences.
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Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
PMID 17267408 · PMC1865061 · Nucleic acids research · 2007 · 6 claims · 6 setups
Measuring allelic imbalance (AI) of two SNP alleles within the same sample is an effective approach for identifying cis-acting rSNPs, since each allele serves as an internal control for the other.
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Integrating genomic based information into clinical warfarin (Coumadin) management: an illustrative case report.
PMID 18763667 · PMC3696193 · Connecticut medicine · 2008 · 8 claims · 6 setups
Combined CYP2C9 and VKORC1 genotype can explain up to 45% of warfarin dose variability
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Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan.
PMID 16055919 · PMC1182175 · Nucleic acids research · 2005 · 7 claims · 5 setups
MDA genotyping call rates and accuracy are only marginally lower than for genomic DNA
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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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Matrix-assisted laser desorption/ionisation, time-of-flight mass spectrometry in genomics research.
PMID 16895448 · PMC1523240 · PLoS genetics · 2006 · 8 claims · 8 setups
MALDI-TOF MS-based primer extension assays (hME, iPLEX) enable cost-effective, high-throughput multiplexed SNP genotyping
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Assaying chromosomal inversions by single-molecule haplotyping.
PMID 16721377 · PMC2690135 · Nature methods · 2006 · 8 claims · 4 setups
Haplotype Fusion PCR (HF-PCR) juxtaposes sequences flanking an inversion breakpoint on single DNA molecules via emulsion PCR, generating orientation-specific fusion products diagnostic of inversion genotype
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In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.
PMID 18076761 · PMC2222643 · BMC genomics · 2007 · 8 claims · 7 setups
A panel of 24 SNPs was selected and validated for human identification using 1,040 unrelated samples from three populations (Italian, Benin Gulf, Mongolian)
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The brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism and depression in Mexican-Americans.
PMID 17632285 · PMC2686836 · Neuroreport · 2007 · 7 claims · 4 setups
BDNF SNP rs6265 (Val66Met) is significantly associated with diagnosis of major depression in Mexican-Americans
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QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
PMID 17341461 · PMC1874617 · Nucleic acids research · 2007 · 8 claims · 7 setups
QuantiSNP (OB-HMM) provides probabilistic quantification of copy number states and significantly improves accuracy of segmental aneuploidy identification and breakpoint mapping relative to existing tools (BeadStudio/Illumina)
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Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
PMID 18989382 · PMC2579935 · Molecular vision · 2008 · 7 claims · 6 setups
Missense mutations in CYP1B1 are most likely responsible for PCG in these three Pakistani families
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A common haplotype within the PON1 promoter region is associated with sporadic ALS.
PMID 18618303 · PMC2739087 · Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases · 2008 · 7 claims · 6 setups
Two SNPs (rs987539 in PON2 intron 6 and rs2074351 upstream of PON1 exon 2) within the paraoxonase gene cluster are significantly associated with susceptibility to sporadic ALS
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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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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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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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Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal cancer.
PMID 12546713 · PMC149362 · BMC genetics · 2003 · 8 claims · 7 setups
PIGR is a nasopharyngeal cancer susceptibility gene
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SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data.
PMID 16262895 · PMC1280925 · BMC genomics · 2005 · 8 claims · 5 setups
Poorly performing SNPs (NoCall rate ≥25%) fail primarily due to inadequate training/localization of the MPAM statistical model call zone, not detection filter failure
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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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Applications of Luminex xMAP technology for rapid, high-throughput multiplexed nucleic acid detection.
PMID 16102740 · PMC7124242 · Clinica chimica acta; international journal of clinical chemistry · 2006 · 6 claims · 7 setups
The Luminex xMAP system uses spectrally distinct dyed microspheres (up to 100 sets) read by dual lasers to enable simultaneous multiplexed analysis of up to 100 reactions in one vessel.
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High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss.
PMID 16086836 · PMC1190179 · BMC medical genetics · 2005 · 8 claims · 6 setups
IVS2-2A>G allele frequency does not differ significantly between hearing-impaired cases and controls among Hispanics and Caucasians (p=0.45)