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 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
PMID 18629826 · PMC2697596 · Human mutation · 2008 · 8 claims · 5 setups
A novel 154-bp mtDNA control region deletion (m.16154_16307del154) was identified in a healthy family
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A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis.
PMID 18667089 · PMC2533022 · BMC genomics · 2008 · 7 claims · 2 setups
HFCC is a method/software for genome-wide epistasis detection using case-control multi-locus association analysis, combining a fast computing algorithm with flexibility to test a variety of epistatic models.
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Association of DRD4 uVNTR and TP53 codon 72 polymorphisms with schizophrenia: a case-control study.
PMID 20040103 · PMC2808306 · BMC medical genetics · 2009 · 6 claims · 5 setups
Long form DRD4 uVNTR alleles (≥5 repeats) are associated with increased risk of schizophrenia
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Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
PMID 18701470 · PMC2562548 · Cancer research · 2008 · 7 claims · 4 setups
Carriers of common ATM variants (>=1% frequency) have a statistically significant reduction in risk of contralateral breast cancer (CBC)
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What can genome-wide association studies tell us about the genetics of common disease?
PMID 18454206 · PMC2323402 · PLoS genetics · 2008 · 8 claims · 4 setups
Apparent patterns of common, low-effect disease-associated alleles largely reflect statistical power of studies rather than the true underlying distribution of disease variants
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Nutrigenetic association of the 5-lipoxygenase gene with myocardial infarction.
PMID 18842779 · PMC3014055 · The American journal of clinical nutrition · 2008 · 8 claims · 4 setups
A significant gene x diet interaction exists between 5-LO promoter short alleles (3,4 repeats) and dietary AA intake in determining MI risk
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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
Coffee drinking (ever/never or by cups/day) was not associated with PD susceptibility
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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
The HTR2C Cys23Ser polymorphism is not significantly associated with migraine or migraine with aura in the case-control study
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Predictive genomics of cardioembolic stroke.
PMID 19064790 · PMC2752697 · Stroke · 2009 · 8 claims · 4 setups
A Bayesian network multivariate model achieves 86% predictive accuracy (AUC) for cardioembolic stroke on fitted values
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Sequencing and genotypic analysis of the triosephosphate isomerase (TPI1) locus in a large sample of long-lived Germans.
PMID 18510744 · PMC2424074 · BMC genetics · 2008 · 7 claims · 4 setups
Sequencing the TPI1 locus in 357 German long-lived individuals identified 17 polymorphisms, 15 of which were rare and previously unknown
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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
IL6 rs2069837 AA x IL10 rs1800871 CC interaction is associated with increased AD risk (synergy factor 1.63)
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Public health genomics approach to type 2 diabetes.
PMID 18971439 · PMC2570384 · Diabetes · 2008 · 7 claims · 3 setups
Combining GWAS-discovered genetic variants provides only weak predictive ability for type 2 diabetes and adds little beyond established clinical risk factors (age, sex, BMI).
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MACSIMS: multiple alignment of complete sequences information management system.
PMID 16792820 · PMC1539025 · BMC bioinformatics · 2006 · 8 claims · 5 setups
MACSIMS is a multiple alignment-based information management system combining knowledge-based database mining with ab initio sequence predictions
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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
Common alleles at DTNBP1 SNPs, particularly rs760761, are associated with schizophrenia in the ICCSS sample
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Oligomeric protein structure networks: insights into protein-protein interactions.
PMID 16336694 · PMC1326230 · BMC bioinformatics · 2005 · 8 claims · 6 setups
Interface amino acid clusters identified at Imin=6% correlate well with residues losing accessible surface area (δASA) upon oligomerization
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Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.
PMID 17428346 · PMC1855920 · BMC medical genetics · 2007 · 7 claims · 5 setups
Two novel missense mutations in the myostatin gene (p.95D>H and p.156L>I) were identified in Japanese DMD patients
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Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.
PMID 19808432 · PMC2725366 · Circulation. Arrhythmia and electrophysiology · 2008 · 8 claims · 7 setups
G1631D causes profound cardiac sodium channel dysfunction: markedly slowed inactivation (~10-fold), increased persistent current, depolarized voltage dependence of activation/inactivation, and slowed recovery from inactivation
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A searchable database of genetic evidence for psychiatric disorders.
PMID 18548508 · PMC2574546 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 4 setups
SLEP (Sullivan Lab Evidence Project) is a freely available, searchable web database of findings from psychiatric genetics for non-commercial use.
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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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AI-assisted discovery of an ethnicity-influenced driver of cell transformation in esophageal and gastroesophageal junction adenocarcinomas.
PMID 36134663 · PMC9675486 · JCI insight · 2022 · 8 claims · 8 setups
An AI-guided Boolean network approach (BoNE) models transcriptomic continuum states of normal esophagus, BE, and EAC to derive classifier gene signatures