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 24

System / cell line: case-control ✕ Assay: allelic ✕ Clear

The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples.

PMID 18460190 · PMC2391158 · BMC medical genetics · 2008 · 8 claims · 4 setups

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A novel candidate-gene selection strategy combining unbiased schizophrenia expression/linkage data with the estrogen hypothesis as a biological filter identifies glycolysis as a candidate pathway network for schizophrenia

case-control same compilation snp haplotype pairwise
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
Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

PMID 19795481 · PMC3501199 · Human mutation · 2009 · 7 claims · 8 setups

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BRCA2 c.6853A>G (p.I2285V) co-occurs in trans with the deleterious founder mutation c.5946delT, supporting classification as a neutral variant

lymphocytes brca2 brca2-null ashkenazi rt-pcr splicing allelic
Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.

PMID 16336637 · PMC1325051 · BMC medical genetics · 2005 · 7 claims · 5 setups

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GLUT10 (SLC2A10) is a facilitative glucose transporter gene mapped within the T2DM-linked chromosome 20q12-13.1 region

caucasian same subjects xenopus snp linkage haplotype
Nutrigenetic association of the 5-lipoxygenase gene with myocardial infarction.

PMID 18842779 · PMC3014055 · The American journal of clinical nutrition · 2008 · 8 claims · 4 setups

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A significant gene x diet interaction exists between 5-LO promoter short alleles (3,4 repeats) and dietary AA intake in determining MI risk

costa buffy genetic real-time allele-specific
PRESTO: rapid calculation of order statistic distributions and multiple-testing adjusted P-values via permutation for one and two-stage genetic association studies.

PMID 18620604 · PMC2483288 · BMC bioinformatics · 2008 · 8 claims · 4 setups

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PRESTO is an order of magnitude faster than other existing permutation testing software for genetic association studies.

case-control same wtccc genome-wide benchmark stratified
Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.

PMID 19661472 · PMC2753702 · Stroke · 2009 · 8 claims · 6 setups

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EDN SNP rs1800542 is associated with increased ischemic stroke risk in Caucasian women

international spyw candidate haplotype population
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
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
Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.

PMID 19750224 · PMC2735778 · PLoS pathogens · 2009 · 7 claims · 5 setups

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The IRGM −261TT genotype is negatively associated with (protective against) pulmonary TB caused by M. tuberculosis

pulmonary tuberculosis reporter genotyped case-control gene spoligotyping
Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

PMID 17901921 · PMC3451673 · The journal of headache and pain · 2007 · 8 claims · 3 setups

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The HTR2C Cys23Ser polymorphism is not significantly associated with migraine or migraine with aura in the case-control study

blood-derived migraine pooled allelic case-control meta-analysis
TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

PMID 15175114 · PMC420466 · BMC medical genetics · 2004 · 8 claims · 6 setups

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A -386G/A SNP in the TP73 P3 promoter is weakly but significantly associated with AD risk in a tri-ethnic elderly population.

brain peripheral sk-nsh-n genomic rt-pcr direct snp
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

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Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts

european african individuals nondiabetic snp variant direct
Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.

PMID 19727905 · PMC2946578 · Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2010 · 7 claims · 6 setups

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Multiple SNPs and haplotypes in FLNB are significantly associated with BMD at lumbar spine, femoral neck, and total hip

southern same subjects genotype tag taqman dual-energy
Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.

PMID 18654633 · PMC2464715 · PLoS genetics · 2008 · 8 claims · 5 setups

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A Bayesian-inspired penalised maximum likelihood stochastic search method can simultaneously analyse all SNPs (up to 500K) from a GWA study in a few hours on a desktop workstation

fregene-simulated 80k-snp 480k 192k simulated null whole-genome
Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.

PMID 18414673 · PMC2289874 · PloS one · 2008 · 6 claims · 7 setups

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SPINK1 N34S is strongly associated with chronic pancreatitis overall

chronic alcoholic idiopathic tropical meta-analysis genotyping publication
Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

PMID 16197552 · PMC1262713 · BMC genomics · 2005 · 8 claims · 5 setups

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Pooling genomic DNA and genotyping on SNP microarrays accurately predicts allelic frequencies relative to individual genotyping

genomic pools training siddt individual pooled k-correction
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

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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

genomic case-control sporadic serum snp allelic sliding-window
Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

PMID 17477860 · PMC1871603 · BMC genetics · 2007 · 7 claims · 5 setups

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DGAT2 is a plausible positional and functional candidate gene for obesity due to its localization at chr.11q13 (a linkage region) and its key role in triglyceride synthesis

extremely families genome sanger case-control family-based
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

Experiments

The estrogen hypothesis of schizophrenia implicates glucose metabolism: association study in three independent samples.

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

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

Genetic analysis of the GLUT10 glucose transporter (SLC2A10) polymorphisms in Caucasian American type 2 diabetes.

Nutrigenetic association of the 5-lipoxygenase gene with myocardial infarction.

PRESTO: rapid calculation of order statistic distributions and multiple-testing adjusted P-values via permutation for one and two-stage genetic association studies.

Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study.

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

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

Autophagy gene variant IRGM -261T contributes to protection from tuberculosis caused by Mycobacterium tuberculosis but not by M. africanum strains.

Genetic association study and meta-analysis of the HTR2C Cys23Ser polymorphism and migraine.

TP73 allelic expression in human brain and allele frequencies in Alzheimer's disease.

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.

Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women.

Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.

Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.

Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

A common haplotype within the PON1 promoter region is associated with sporadic ALS.

Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.

Genetic and functional association of FAM5C with myocardial infarction.