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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Clustering by neurocognition for fine mapping of the schizophrenia susceptibility loci on chromosome 6p.
PMID 19694819 · PMC4286260 · Genes, brain, and behavior · 2009 · 6 claims · 6 setups
A family-based clustering strategy using neurocognitive test scores (CPT, WCST) can identify more homogeneous subgroups of schizophrenia families for genetic association analysis
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Utah's Family High Risk Program: bridging the gap between genomics and public health.
PMID 15888235 · PMC1327718 · Preventing chronic disease · 2005 · 8 claims · 6 setups
Collection of family history through the Family High Risk Program (FHRP) is a cost-effective method for identifying and intervening with high-risk populations for chronic disease
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Genetic variants of surfactant proteins A, B, C, and D in bronchopulmonary dysplasia.
PMID 17264398 · PMC3850613 · Disease markers · 2006 · 7 claims · 4 setups
Significant associations (p ≤ 0.01) were found between BPD subgroups and alleles of SP-B and SP-B-linked microsatellite markers, and haplotypes of SP-A, SP-D, and SP-B
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Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
PMID 18053270 · PMC2222245 · BMC medical genetics · 2007 · 8 claims · 6 setups
PITX1 polymorphisms and haplotypes are significantly associated with autism
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Detection of genetic association and a functional polymorphism of dynamin 1 gene with nicotine dependence in European and African Americans.
PMID 18987626 · PMC2656577 · Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2009 · 8 claims · 5 setups
DNM1 SNP rs3003609 is significantly associated with Smoking Quantity (SQ) and Heaviness of Smoking Index (HSI) in the European-American (EA) sample, surviving correction for multiple testing.
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Polymorphism at the C-reactive protein locus influences gene expression and predisposes to systemic lupus erythematosus.
PMID 14645206 · PMC3707088 · Human molecular genetics · 2004 · 8 claims · 5 setups
The minor (rare) allele of CRP SNP 'CRP 4' is associated/linked with development of SLE in family-based transmission studies.
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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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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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The ITGAV rs3738919-C allele is associated with rheumatoid arthritis in the European Caucasian population: a family-based study.
PMID 17615072 · PMC2206364 · Arthritis research & therapy · 2007 · 8 claims · 2 setups
The ITGAV rs3738919-C allele is significantly associated with rheumatoid arthritis in European Caucasian trio families
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Sex differences in cancer risk among germline p53 mutation carriers.
PMID 15280910 · PMC2409855 · British journal of cancer · 2004 · 6 claims · 3 setups
Cancer risk in germline p53 mutation carriers differs by sex, with females at higher risk than males in adulthood, was first reported by Chompret et al 2000, three years before a confirmatory study by Hwang et al 2003 claimed similar findings without citing the earlier work.
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Genetics and proteomics: deciphering gene association studies in critical illness.
PMID 16934133 · PMC1750993 · Critical care (London, England) · 2006 · 8 claims · 8 setups
Most critical illnesses are complex traits (multifactorial), unlike single-gene Mendelian diseases.
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The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica.
PMID 17519028 · PMC1888683 · BMC psychiatry · 2007 · 6 claims · 4 setups
The NRG1 exon 11 missense variant (G>T) is not associated with autism in the CVCR.
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Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.
PMID 17477860 · PMC1871603 · BMC genetics · 2007 · 7 claims · 5 setups
DGAT2 is a plausible positional and functional candidate gene for obesity due to its localization at chr.11q13 (a linkage region) and its key role in triglyceride synthesis
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Approaching the genomics of risk-taking behavior.
PMID 20109660 · PMC3961474 · Advances in genetics · 2009 · 8 claims · 8 setups
Candidate genes (e.g., DRD4, SERT, MAOA) explain only a small fraction of total genetic variation in risk-taking-related behaviors, motivating a whole-genome approach.
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Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes.
PMID 16504056 · PMC1402321 · BMC genetics · 2006 · 7 claims · 8 setups
No statistical evidence of a major association between T1D and any of the interferon or interferon-related genes tested (IFNA cluster, IFNB1, IFNW1, IFNG, ICSBP1)
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Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.
PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups
Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls
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Evaluation of two methods for computational HLA haplotypes inference using a real dataset.
PMID 18230173 · PMC2268655 · BMC bioinformatics · 2008 · 8 claims · 5 setups
PHASE v2.1.1 had the best overall performance in both haplotype construction and frequency calculation compared to Arlequin V3.0
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MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
PMID 18154640 · PMC2233610 · BMC medical genetics · 2007 · 8 claims · 6 setups
Chromosome 8p23.1 has previously been proposed as a nuclear modifier locus for A1555G-associated hearing loss phenotype
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Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.
PMID 18334955 · PMC2268852 · Molecular vision · 2008 · 7 claims · 4 setups
MFRP mutations were previously reported to cause nanophthalmos and a distinct microphthalmos/retinitis pigmentosa/foveoschisis syndrome, motivating it as a candidate gene for axial length regulation
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A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples.
PMID 20012890 · PMC2797846 · Behavior genetics · 2010 · 6 claims · 4 setups
SNP Microarrays and Pooling (SNP-MaP) is a valid economical method for genome-wide screening of quantitative trait extremes using pooled DNA on microarrays