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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Variation in breast cancer risk in BRCA1 and BRCA2 mutation carriers.
PMID 18710587 · PMC2575529 · Breast cancer research : BCR · 2008 · 8 claims · 4 setups
Lifetime breast cancer risk estimates in BRCA1/2 mutation carriers vary widely (roughly 40% to >80%) depending on the study population and ascertainment method
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Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.
PMID 19043545 · PMC2581785 · PLoS genetics · 2008 · 7 claims · 4 setups
A GWA study using serum metabolomics identifies SNPs associated with metabolite concentrations, explaining up to 12% of variance for single metabolites
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Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families.
PMID 17900373 · PMC2082241 · BMC dermatology · 2007 · 8 claims · 4 setups
This is the first SNP-based genome-wide linkage study of atopic dermatitis performed in an Asian population.
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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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Nutrigenomics in cardiovascular medicine.
PMID 20031645 · PMC2810265 · Circulation. Cardiovascular genetics · 2009 · 8 claims · 8 setups
The main problem facing Nutrigenomics is the lack of replication of initially reported gene-diet interactions, which precludes their present application in CVD prevention and treatment.
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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
Smoking is associated with adenoma and CRC development, with the association strongest in tumors lacking APC truncation mutations
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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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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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A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33.
PMID 19823874 · PMC2793378 · Human genetics · 2010 · 7 claims · 7 setups
Deep resequencing of a 56 kb region on chr19q13.33 identified 555 polymorphic loci, including 116 novel SNPs and 182 novel indels.
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Discovery and validation of new molecular targets in treating dyslipidemia: the role of human genetics.
PMID 20211435 · PMC3328807 · Trends in cardiovascular medicine · 2009 · 8 claims · 8 setups
Mendelian randomization uses genetic variants as a 'randomized trial of nature' to assess causal relationships between lipid biomarkers and CHD, overcoming confounding and reverse causality limitations of observational epidemiology.
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Social and ethical implications of genomics, race, ethnicity, and health inequities.
PMID 19000599 · PMC2892396 · Seminars in oncology nursing · 2008 · 8 claims · 5 setups
Race and ethnicity are increasingly viewed as genetic surrogates for predicting disease risk and treatment response, though directly assessing genomic and environmental factors is more accurate.
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Studying gene-behavior interactions: summary of recommendations.
PMID 19037222 · PMC2719886 · Obesity (Silver Spring, Md.) · 2008 · 7 claims · 2 setups
A gene's main effect on a trait must be distinguished from its effects via interaction with behavioral or environmental perturbations
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Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.
PMID 11044354 · PMC2408797 · British journal of cancer · 2000 · 6 claims · 4 setups
BRCA1 and BRCA2 mutations are rare in the general population and account for only a small fraction of all breast cancer in the UK
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Nutrigenomics: the genome--food interface.
PMID 18087577 · PMC2137135 · Environmental health perspectives · 2007 · 8 claims · 8 setups
Nutrigenomics integrates genomic science with nutrition to study how dietary components affect gene expression, the proteome, and the metabolome.
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Designing candidate gene and genome-wide case-control association studies.
PMID 17947991 · PMC4180089 · Nature protocols · 2007 · 8 claims · 4 setups
Common complex diseases are influenced by multiple genetic and environmental factors that individually are neither necessary nor sufficient to cause disease
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Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action.
PMID 15888216 · PMC1327699 · Preventing chronic disease · 2005 · 8 claims · 6 setups
Family history is the most consistent risk factor for almost all human diseases across the lifespan.
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Advances in breast cancer: pathways to personalized medicine.
PMID 19088015 · PMC4535810 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups
Germline BRCA1/BRCA2 mutations are strong predictors of breast and ovarian cancer, conferring a 40-80% lifetime risk of breast cancer
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Population carrier frequency of hMSH2 and hMLH1 mutations.
PMID 11104559 · PMC2363440 · British journal of cancer · 2000 · 6 claims · 6 setups
Population carrier frequency of hMSH2/hMLH1 mutations in people aged 15-74 years is estimated at 1:3139 (95% CI 1:1247-1:7626)
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Obesity genes: so close and yet so far..
PMID 19046411 · PMC2776388 · Journal of biology · 2008 · 8 claims · 7 setups
GWA studies have confirmed only a few obesity-associated loci (INSIG2, FTO, MC4R) so far, each with modest individual effects on BMI
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The association between headache and Val158Met polymorphism in the catechol-O-methyltransferase gene: the HUNT Study.
PMID 16688411 · PMC3451703 · The journal of headache and pain · 2006 · 7 claims · 3 setups
No association was found between COMT Val158Met polymorphism and migraine in a population-based sample.