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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CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.
PMID 15507145 · PMC526769 · BMC medical genetics · 2004 · 8 claims · 7 setups
PCR amplification and sequencing of CLC-2 revealed 1 SNP in the promoter, 4 SNPs in intron 1, and none in exon 20
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Motif discovery in promoters of genes co-localized and co-expressed during myeloid cells differentiation.
PMID 19059999 · PMC2632922 · Nucleic acids research · 2009 · 6 claims · 8 setups
A novel multi-step computational method (built on approximate pattern enumeration, binomial over-representation scoring with FDR correction, and k-medoids clustering) can identify over-represented motifs in a selected set of promoters relative to a background promoter set.
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The distribution of SNPs in human gene regulatory regions.
PMID 16209714 · PMC1260019 · BMC genomics · 2005 · 8 claims · 6 setups
SNPs occur with higher density closer to the transcriptional start site within gene promoter regions than in further upstream regions
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Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1) and association with bipolar affective disorder in Taiwan.
PMID 15799788 · PMC1079843 · BMC medical genetics · 2005 · 8 claims · 7 setups
Systematic screening of TPH1 exons and promoter region in Taiwanese Han identified five sequence variants: A-1067G, G-347T, T3804A, C27224T, A27237G.
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Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1.
PMID 17645789 · PMC1947951 · BMC medical genetics · 2007 · 7 claims · 7 setups
Resequencing of PNMT found no common susceptibility variants that distinguish hypertensive from normotensive individuals
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Association of GSK3B with Alzheimer disease and frontotemporal dementia.
PMID 18852354 · PMC2841136 · Archives of neurology · 2008 · 8 claims · 5 setups
The GSK3B intronic polymorphism IVS2-68G>A is associated with increased risk of AD and FTD in a case-control cohort
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FatiGO +: a functional profiling tool for genomic data. Integration of functional annotation, regulatory motifs and interaction data with microarray experiments.
PMID 17478504 · PMC1933151 · Nucleic acids research · 2007 · 8 claims · 8 setups
FatiGO+ is a web-based tool for functional profiling of genome-scale experiments that integrates functional annotation, regulatory motifs and interaction data
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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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Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.
PMID 18803811 · PMC2556318 · BMC medical genetics · 2008 · 8 claims · 7 setups
CDKN2A germline mutations were found in 7 of 25 (28.0%) Slovenian melanoma families
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BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis?
PMID 18782444 · PMC2553419 · BMC cancer · 2008 · 8 claims · 7 setups
KRAS, BRAF and PIK3CA mutations occur in the majority of colorectal polyps and are mutually exclusive
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BABELOMICS: a systems biology perspective in the functional annotation of genome-scale experiments.
PMID 16845052 · PMC1538844 · Nucleic acids research · 2006 · 8 claims · 8 setups
Babelomics is presented as an updated, complete suite of web tools for functional analysis of genome-scale experiments with new and improved modules