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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Detecting natural selection by empirical comparison to random regions of the genome.
PMID 19783549 · PMC2778377 · Human molecular genetics · 2009 · 8 claims · 5 setups
Comparing candidate loci to empirically matched random genomic regions (ENCODE data) avoids the strong demographic/mutation assumptions required by theoretical neutral models and provides a robust test for selection
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Gene losses during human origins.
PMID 16464126 · PMC1361800 · PLoS biology · 2006 · 7 claims · 7 setups
A comparative genomic screen identified 67 new human-specific nonprocessed pseudogenes, bringing the total (with 13 from prior literature) to 80 human-specific pseudogenes.
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Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration.
PMID 20042177 · PMC3026437 · American journal of ophthalmology · 2010 · 6 claims · 4 setups
The Gln192Arg PON1 polymorphism is associated with decreased susceptibility to AMD, particularly wet AMD, indicating a protective effect
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Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea.
PMID 15608390 · PMC2816309 · Journal of Korean medical science · 2004 · 6 claims · 3 setups
The Gly460Trp polymorphism of ADD-1 is not associated with essential hypertension in a Korean population
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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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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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Evidence for limited genetic compartmentalization of HIV-1 between lung and blood.
PMID 19759830 · PMC2736399 · PloS one · 2009 · 8 claims · 7 setups
Statistical evidence of genetic compartmentalization between lung and blood HIV-1 env sequences was found in 10 of 18 subjects.
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PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.
PMID 16620382 · PMC1459209 · BMC bioinformatics · 2006 · 7 claims · 3 setups
PedGenie is a valid, flexible statistical tool for genetic association analysis in pedigrees of arbitrary size and structure using Monte Carlo significance testing
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Genetic polymorphisms of Echinococcus tapeworms in China as determined by mitochondrial and nuclear DNA sequences.
PMID 19800346 · PMC2823955 · International journal for parasitology · 2010 · 8 claims · 7 setups
Species identification by mitochondrial (cox1) and nuclear (ef1a) markers was identical across isolates, indicating introgressive hybridization among sympatric Echinococcus species is infrequent.
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Genetic and epigenetic changes in primary metastatic and nonmetastatic colorectal cancer.
PMID 16969349 · PMC2360724 · British journal of cancer · 2006 · 8 claims · 8 setups
K-Ras codon 12 mutations are significantly associated with metastatic (M+) CRC
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Genetic distance and heterogenecity between quasispecies is a critical predictor to IFN response in Egyptian patients with HCV genotype-4.
PMID 17300723 · PMC1805740 · Virology journal · 2007 · 7 claims · 7 setups
Genetic distance and heterogeneity between HCV quasispecies is a critical predictor of IFN response in Egyptian genotype-4 patients
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Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans.
PMID 15361934 · PMC515368 · PLoS biology · 2004 · 7 claims · 8 setups
The HIF-1/VHL-1/EGL-9 hydroxylase pathway is tightly conserved in C. elegans
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A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.
PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups
The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals
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Genetic differences between avian and human isolates of Candida dubliniensis.
PMID 19788816 · PMC2819872 · Emerging infectious diseases · 2009 · 7 claims · 6 setups
13 of 14 avian-associated C. dubliniensis isolates form a genetically distinct subgroup within MLST clade C1, separate from human isolates
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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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Simple models of genomic variation in human SNP density.
PMID 17553150 · PMC1919371 · BMC genomics · 2007 · 6 claims · 4 setups
Hierarchical Poisson model B, which allows both the mutation-rate proxy (Beta-distributed Λ) and the ARG-size proxy (Gamma-distributed T) to vary, fits the observed SNP density distribution significantly better than models with only one or neither varying.
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Integrated analysis of genetic and proteomic data identifies biomarkers associated with adverse events following smallpox vaccination.
PMID 18923431 · PMC2692715 · Genes and immunity · 2009 · 7 claims · 6 setups
A two-stage strategy (Random Forest filtering followed by decision tree modeling) can integrate categorical genetic and continuous proteomic data to identify biomarkers of AE risk
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Human synthetic lethal inference as potential anti-cancer target gene detection.
PMID 20015360 · PMC2804737 · BMC systems biology · 2009 · 7 claims · 8 setups
Targeting the synthetic lethal partner of a gene mutated in cancer selectively damages tumor cells while sparing healthy cells, offering a rationale for anti-cancer drug design
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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
The IRGM −261TT genotype is negatively associated with (protective against) pulmonary TB caused by M. tuberculosis
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Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists.
PMID 16351744 · PMC1866390 · BMC bioinformatics · 2005 · 5 claims · 3 setups
OMIM Clinical Synopsis free-text phenotype and location names can be normalized and hierarchically structured into a controlled vocabulary suitable for computational analysis