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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Application of two machine learning algorithms to genetic association studies in the presence of covariates.
PMID 19014573 · PMC2620353 · BMC genetics · 2008 · 8 claims · 3 setups
The relative performance of RF and MARS for detecting genotype-trait associations depends on both the strategy used to handle covariates and the true underlying model of association (e.g., confounding vs. mediation vs. interaction).
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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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Has reproduction · 69
Meta-analysis of six dairy cattle breeds reveals biologically relevant candidate genes for mastitis resistance.
PMID 39009986 · PMC11247842 · Genetics, selection, evolution : GSE · 2024 · 6 claims · 8 setups
Meta-analysis of GWAS across multiple breeds for CM and SCS identified 58 lead markers associated with mastitis incidence, including 16 loci not overlapping previously identified QTL in AnimalQTLdb.
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Is replication the gold standard for validating genome-wide association findings?
PMID 19112512 · PMC2605260 · PloS one · 2008 · 8 claims · 4 setups
The probability of replicating a specific GWA-identified variant decreases as the number of independent GWA/replication studies increases, when individual study power is less than 100%.
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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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Has reproduction
Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
PMID 30578418 · PMC6365102 · Nature genetics · 2019 · 8 claims · 8 setups
Discovery and replication GWAS of SBP, DBP and pulse pressure in up to 776,078 individuals identified 208 novel common blood pressure SNPs and 53 rare variants.
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Calibrating the performance of SNP arrays for whole-genome association studies.
PMID 18584036 · PMC2432039 · PLoS genetics · 2008 · 8 claims · 7 setups
Previous SNP array genetic coverage estimates are inflated due to SNP overfitting and sample overfitting, since they were evaluated on the same HapMap SNPs/individuals used to design the arrays.
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25th Annual San Antonio Breast Cancer Symposium, San Antonio, Texas, USA, 10-14 December 2002 Update on preclinical and translational research.
PMID 12631391 · PMC154153 · Breast cancer research : BCR · 2003 · 8 claims · 8 setups
Growth factor signalling (EGF/HER-2/MAPK, AKT) phosphorylates the oestrogen receptor and drives development of endocrine-resistant breast cancer
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Expanding the vision of environmental health at UNC-CH.
PMID 15248304 · PMC1247395 · Environmental health perspectives · 2004 · 8 claims · 8 setups
Human breast tumors arise from at least two distinct cell types, basal and luminal epithelial, with different clinical behavior
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Nutritional genomics, polyphenols, diets, and their impact on dietetics.
PMID 18954579 · PMC2692306 · Journal of the American Dietetic Association · 2008 · 8 claims · 8 setups
Nutrient-gene interactions, exemplified by the MTHFR C677T polymorphism, modulate individual metabolic responses (e.g., homocysteine metabolism) and can be offset by adjusting nutrient intake such as folate
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Associations between polycyclic aromatic hydrocarbon-related exposures and p53 mutations in breast tumors.
PMID 20064791 · PMC2854728 · Environmental health perspectives · 2010 · 8 claims · 5 setups
PAH-related exposures are associated with breast cancer differently according to tumor p53 mutation status, type, effect, and number
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Digital evolution.
PMID 14551915 · PMC212697 · PLoS biology · 2003 · 7 claims · 5 setups
Digital organisms (Avidians) evolved from simple self-replicators, through an unexpected transitional form, to complex performers of many logic functions, with the full genealogy traceable and no missing links.
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Exome sequencing identifies the cause of a mendelian disorder.
PMID 19915526 · PMC2847889 · Nature genetics · 2010 · 8 claims · 7 setups
Exome sequencing of a small number of unrelated affected individuals, combined with filtering against public SNP databases and HapMap exomes, is sufficient to identify the causal gene for a monogenic disorder of unknown etiology.
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MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
PMID 19758471 · PMC2745589 · BMC bioinformatics · 2009 · 8 claims · 5 setups
MtSNPscore, a weighted scoring pipeline combining literature evidence, in silico predictions, and case/control frequency, can prioritize likely pathogenic mtDNA variations
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Two committees tackle toxicogenomics.
PMID 12501852 · PMC1241123 · Environmental health perspectives · 2002 · 8 claims · 8 setups
NIEHS funded a $37 million, five-year Toxicogenomics Research Consortium (TRC) linking the NIEHS Microarray Center with five academic institutions (UNC, Duke, Fred Hutchinson/UW, MIT, OHSU) to coordinate gene-expression research on environmental health effects.
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Incorporation of genetic model parameters for cost-effective designs of genetic association studies using DNA pooling.
PMID 17634103 · PMC1947971 · BMC genomics · 2007 · 8 claims · 4 setups
A closed-form approximation to the F-test non-centrality parameter (NCP) incorporating genetic model parameters (disease allele frequency, marker allele frequency, prevalence, genotype relative risk, sample size, genetic model, number of pools/replicates, machine variability) can be used to compute power for DNA pooling association studies
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Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy.
PMID 19842929 · PMC2923222 · Pharmacogenomics · 2009 · 8 claims · 8 setups
Approximately 15-20% of nonsynonymous variants in membrane transporters exhibit reduced function
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Prevalence of the congenital long-QT syndrome.
PMID 19841298 · PMC2784143 · Circulation · 2009 · 7 claims · 6 setups
The prevalence of LQTS among Caucasian apparently healthy live-births is at least 1:2,534 (95% CI 1:1,583-1:4,350)
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Genetic variation at hair length candidate genes in elephants and the extinct woolly mammoth.
PMID 19747392 · PMC2754481 · BMC evolutionary biology · 2009 · 8 claims · 5 setups
The coding sequence of FGF5 is not the critical determinant of hair length differences among elephantids, including the woolly mammoth.