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).

Publications 1.3k Datasets 392.5k Experiments 23

System / cell line: cases ✕ Assay: logistic ✕ Clear

A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.

PMID 17571925 · PMC1904362 · PLoS genetics · 2007 · 8 claims · 5 setups

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A genomic pathway approach using axon-guidance pathway SNPs strongly predicts PD susceptibility, survival free of PD, and age at onset of PD

cases patients postmortem whole-genome cox linear
Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

PMID 19096531 · PMC2605106 · Molecular vision · 2008 · 8 claims · 4 setups

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OPTN coding variant allele frequencies do not differ significantly between POAG cases and controls in the Ghanaian population.

genomic ghanaian pcr taqman logistic
Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.

PMID 18655717 · PMC2515290 · BMC medical genetics · 2008 · 8 claims · 4 setups

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rs7903146 T allele frequency does not differ significantly between Saudi T2D cases and controls (OR 1.04, 95% CI 0.86-1.27, P=0.675)

peripheral saudi genotype subset snp case-control haplotype
Analysis of variants in DNA damage signalling genes in bladder cancer.

PMID 18638378 · PMC2488326 · BMC medical genetics · 2008 · 7 claims · 5 setups

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SNPs in DSB signalling genes may modulate predisposition to bladder cancer and influence effects of environmental exposures

peripheral case-control unphased extracted snp confirmatory logistic
Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology.

PMID 18676414 · PMC2639365 · International journal of epidemiology · 2009 · 7 claims · 2 setups

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Conventional power calculations for case-control studies disregard analytic complexity (e.g. clinical assessment errors, unmeasured aetiological determinants) and can seriously underestimate true sample size requirements

simulated simulation-based simulated
Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

PMID 18557994 · PMC2481495 · Breast cancer research : BCR · 2008 · 8 claims · 8 setups

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Mutation frequencies in ATM, BRIP1, PALB2 and CHEK2 are many times higher in women with strong breast cancer family history (familial cases) than in population controls.

women familial finnish unselected germline international statistical
The dystrobrevin binding protein 1 (DTNBP1) gene is associated with schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample.

PMID 19800201 · PMC2783814 · Schizophrenia research · 2009 · 8 claims · 7 setups

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Common alleles at DTNBP1 SNPs, particularly rs760761, are associated with schizophrenia in the ICCSS sample

irish chimpanzee dtnbp1 snp haplotype case
Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.

PMID 18759349 · PMC4554698 · Movement disorders : official journal of the Movement Disorder Society · 2008 · 8 claims · 5 setups

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Coffee drinking (ever/never or by cups/day) was not associated with PD susceptibility

blood-derived subjects matched genomic snp structured conditional
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups

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Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)

peripheral wecare atm mutation case-control variant
A simple and efficient algorithm for genome-wide homozygosity analysis in disease.

PMID 19756043 · PMC2758715 · Molecular systems biology · 2009 · 8 claims · 4 setups

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A genome-wide AH analysis (GAHA) algorithm can identify disease-associated loci by comparing frequencies of homozygous segments between cases and controls using a z-statistic proportion test

unrelated simulated selected genes genome-wide statistical logistic
Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease.

PMID 19698145 · PMC2744667 · Journal of neuroinflammation · 2009 · 8 claims · 4 setups

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IL6 rs2069837 AA x IL10 rs1800871 CC interaction is associated with increased AD risk (synergy factor 1.63)

blood-derived pooled snp genome-wide logistic
Genetic and functional association of FAM5C with myocardial infarction.

PMID 18430236 · PMC2383879 · BMC medical genetics · 2008 · 8 claims · 5 setups

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SNPs within FAM5C show genetic linkage to and association with myocardial infarction in the GENECARD family-based sample

genecard cathgen donor aortic genome-wide case-control expression
Associations between polycyclic aromatic hydrocarbon-related exposures and p53 mutations in breast tumors.

PMID 20064791 · PMC2854728 · Environmental health perspectives · 2010 · 8 claims · 5 setups

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PAH-related exposures are associated with breast cancer differently according to tumor p53 mutation status, type, effect, and number

archived breast peripheral study surveyor immunohistochemistry competitive
Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.

PMID 19844207 · PMC2797562 · Molecular psychiatry · 2010 · 8 claims · 7 setups

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rs1344706 in ZNF804A is associated with schizophrenia in the Irish ICCSS sample, replicating the original Cardiff finding

irish iccss postmortem genomic snp haplotype logistic
Investigating the genetic association between ERAP1 and ankylosing spondylitis.

PMID 19692350 · PMC2758148 · Human molecular genetics · 2009 · 8 claims · 8 setups

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The genetic association between ERAP1 and AS is confirmed in an independent replication cohort

patients cases genotype comparison snp meta-analysis resequencing
Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

PMID 15743496 · PMC1064127 · Breast cancer research : BCR · 2005 · 7 claims · 5 setups

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A common BRCA1 haplotype (haplotype 2, C A G G) is associated with a modest increase in sporadic breast cancer risk

individuals nested same nurses whole-gene snp statistical
Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.

PMID 16545110 · PMC1475604 · BMC cancer · 2006 · 8 claims · 4 setups

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Smoking is associated with adenoma and CRC development, with the association strongest in tumors lacking APC truncation mutations

formalin-fixed ffpe paired study direct pcr restriction
Scalable Prediction of Acute Myeloid Leukemia Using High-Dimensional Machine Learning and Blood Transcriptomics.

PMID 31918046 · PMC6992905 · iScience · 2020 · 8 claims · 8 setups

Has reproduction · 96

Data-driven, high-dimensional ML approaches that learn multivariate signatures directly from genome-wide transcriptomic data (no prior gene selection) yield accurate and robust AML classifiers.

peripheral pbmc datasets hg-u133 gene bulk machine
Mutant, wild type, or overall p53 expression: freedom from clinical progression in tumours of astrocytic lineage.

PMID 15494720 · PMC2409947 · British journal of cancer · 2004 · 8 claims · 7 setups

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Significant overexpression of p53 protein was found in 48% of 74 astrocytic tumours

archival subset recombinant same immunohistochemistry antibody cytokeratin
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

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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.

blood germline tumor family mutation mlpa microsatellite

Experiments

A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.

Weak or no association of TCF7L2 variants with Type 2 diabetes risk in an Arab population.

Analysis of variants in DNA damage signalling genes in bladder cancer.

Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology.

Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

The dystrobrevin binding protein 1 (DTNBP1) gene is associated with schizophrenia in the Irish Case Control Study of Schizophrenia (ICCSS) sample.

Coffee, caffeine-related genes, and Parkinson's disease: a case-control study.

Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

A simple and efficient algorithm for genome-wide homozygosity analysis in disease.

Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease.

Genetic and functional association of FAM5C with myocardial infarction.

Associations between polycyclic aromatic hydrocarbon-related exposures and p53 mutations in breast tumors.

Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample.

Investigating the genetic association between ERAP1 and ankylosing spondylitis.

Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.

Association between cigarette smoking, APC mutations and the risk of developing sporadic colorectal adenomas and carcinomas.

Scalable Prediction of Acute Myeloid Leukemia Using High-Dimensional Machine Learning and Blood Transcriptomics.

Mutant, wild type, or overall p53 expression: freedom from clinical progression in tumours of astrocytic lineage.

Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy.