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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Imputation of missing genotypes: an empirical evaluation of IMPUTE.
PMID 19077279 · PMC2636842 · BMC genetics · 2008 · 8 claims · 7 setups
IMPUTE achieves 97% median genotype imputation accuracy in Caucasian (NNC) subjects when <10% of SNPs are untyped
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Has reproduction
Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.
PMID 35922433 · PMC9349177 · Nature communications · 2022 · 8 claims · 7 setups
GWAS identified 102 genome-wide significant loci (including 27 novel) associated with aortic distensibility and area traits
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SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.
PMID 18366708 · PMC2289803 · BMC medical genetics · 2008 · 7 claims · 6 setups
Illumina validation/design scores above 0.6 are not strongly correlated with actual SNP genotyping performance (Gentrain score)
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Emerging strategies and applications of pharmacogenomics.
PMID 15606999 · PMC3500198 · Human genomics · 2004 · 7 claims · 7 setups
Effective pharmacogenomics requires infrastructure including informed consent processes, accurate phenotypic data collection, high-throughput genotyping technology, and integrated information technology systems.
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Continued colonization of the human genome by mitochondrial DNA.
PMID 15361937 · PMC515365 · PLoS biology · 2004 · 7 claims · 6 setups
NUMT insertion into nuclear chromosomes is an ongoing process shaped by double-strand-break repair (as shown in yeast) and continuing in humans.
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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups
IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria
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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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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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Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.
PMID 19876656 · PMC2899680 · Pediatric nephrology (Berlin, Germany) · 2010 · 7 claims · 3 setups
Self-identified Hispanic SRNS patients in the USA are genetically heterogeneous, being of either Caucasian or Mesoamerican (Native-American) descent
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Genetic and functional association of FAM5C with myocardial infarction.
PMID 18430236 · PMC2383879 · BMC medical genetics · 2008 · 8 claims · 5 setups
SNPs within FAM5C show genetic linkage to and association with myocardial infarction in the GENECARD family-based sample
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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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Genetical genomic determinants of alcohol consumption in rats and humans.
PMID 19874574 · PMC2777866 · BMC biology · 2009 · 8 claims · 6 setups
A genetical genomics approach combining brain gene expression, bQTL, and eQTL analysis in HXB/BXH RI rats identifies candidate genes for alcohol consumption