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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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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A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups
A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01
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Discovery-based science education: functional genomic dissection in Drosophila by undergraduate researchers.
PMID 15719063 · PMC548953 · PLoS biology · 2005 · 8 claims · 3 setups
Discovery-based genomics research can be integrated into an undergraduate curriculum, engaging large numbers of students in professional-quality research without compromising didactic training
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Association of polymorphisms in cyclooxygenase (COX)-2 with coronary and carotid calcium in the Diabetes Heart Study.
PMID 18768181 · PMC2699582 · Atherosclerosis · 2009 · 8 claims · 6 setups
COX-2 promoter SNP rs689466 is associated with lower coronary calcified plaque (CorCP)
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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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Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.
PMID 18510646 · PMC2689154 · Annals of human genetics · 2008 · 7 claims · 5 setups
Direct sequencing of 43 candidate genes in 7 Spanish arRP families identified 244 sequence variants (76 novel), none pathogenic, excluding these genes as disease-causing.
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Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization.
PMID 16839184 · PMC1500809 · PLoS genetics · 2006 · 8 claims · 8 setups
Cre/loxP recombination in ES cells can generate megabase-scale deletions, duplications, and inversions depending on loxP orientation, cis/trans configuration, and cell cycle stage
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Association of adiponectin gene polymorphisms with type 2 diabetes in an African American population enriched for nephropathy.
PMID 19056609 · PMC2628626 · Diabetes · 2009 · 8 claims · 5 setups
SNP rs182052 in intron 1 of ADIPOQ is associated with diabetic nephropathy in African Americans
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Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes.
PMID 18567820 · PMC2518507 · Diabetes · 2008 · 8 claims · 5 setups
CDC123/CAMK1D rs12779790 risk allele (homozygous) is associated with decreased insulinogenic index, corrected insulin response (CIR), and AUC-insulin/AUC-glucose ratio, indicating impaired insulin release
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Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.
PMID 17324265 · PMC1810516 · BMC medical genetics · 2007 · 8 claims · 3 setups
Developed a real-time TaqMan PCR method that quantifies PARK2 exon 1-12 copy number by comparing amplification signal to the β-globin internal control gene
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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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Simultaneous analysis of all SNPs in genome-wide and re-sequencing association studies.
PMID 18654633 · PMC2464715 · PLoS genetics · 2008 · 8 claims · 5 setups
A Bayesian-inspired penalised maximum likelihood stochastic search method can simultaneously analyse all SNPs (up to 500K) from a GWA study in a few hours on a desktop workstation