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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Aryl hydrocarbon receptor nuclear translocator (ARNT) gene as a positional and functional candidate for type 2 diabetes and prediabetic intermediate traits: Mutation detection, case-control studies, and gene expression analysis.
PMID 18366646 · PMC2323364 · BMC medical genetics · 2008 · 7 claims · 8 setups
Common ARNT variants are not associated with type 2 diabetes in European American or African American case-control cohorts
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Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.
PMID 18363280 · PMC2686955 · The Korean journal of internal medicine · 2008 · 8 claims · 7 setups
The patient's resistance to thyroid hormone (RTH) was caused by a novel missense mutation (V349M, c.1045G>A) in exon 11 of the TRβ gene, the first such case reported in Korea.
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Indirect genomic effects on survival from gene expression data.
PMID 18358079 · PMC2397510 · Genome biology · 2008 · 7 claims · 6 setups
A novel methodology (dynamic path analysis combined with additive hazard survival regression) can detect and quantify indirect effects of gene expression on survival mediated through transcription factor target genes.
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Comparing whole genomes using DNA microarrays.
PMID 18347592 · PMC7097741 · Nature reviews. Genetics · 2008 · 8 claims · 6 setups
DNA microarrays offer a relatively inexpensive and efficient alternative to genome sequencing for comparing all known classes of genomic diversity between closely related genomes.
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Proteomic analysis of aqueous humor from patients with myopia.
PMID 18334949 · PMC2268849 · Molecular vision · 2008 · 7 claims · 6 setups
Total protein concentration in AH is significantly greater in high myopia patients than in non-myopic controls
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A non-parametric meta-analysis approach for combining independent microarray datasets: application using two microarray datasets pertaining to chronic allograft nephropathy.
PMID 18302764 · PMC2276496 · BMC genomics · 2008 · 8 claims · 6 setups
A novel non-parametric meta-analysis approach for combining independent microarray datasets is presented, requiring no distributional assumptions and being logically intuitive.
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Large-scale analysis of Macaca fascicularis transcripts and inference of genetic divergence between M. fascicularis and M. mulatta.
PMID 18294402 · PMC2287170 · BMC genomics · 2008 · 8 claims · 6 setups
Constructed full-length-enriched cDNA libraries and determined 85,721 EST sequences and 9407 full-insert sequences from cynomolgus macaque brain (7 regions), testis, and liver
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Adaptations to climate in candidate genes for common metabolic disorders.
PMID 18282109 · PMC2242814 · PLoS genetics · 2008 · 8 claims · 7 setups
A network-based bioinformatics approach (Molecular Triangulation) was used to select 82 candidate genes belonging to the core subnetwork of metabolic syndrome phenotypes.
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Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.
PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups
The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)
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Commonality of functional annotation: a method for prioritization of candidate genes from genome-wide linkage studies.
PMID 18263617 · PMC2275105 · Nucleic acids research · 2008 · 8 claims · 7 setups
Genes correlated with a common complex trait are more likely to share GO functional annotations than genes not correlated with that trait
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BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
PMID 18234728 · PMC2564862 · Journal of medical genetics · 2008 · 8 claims · 7 setups
BHD germline mutation detection rate was 88% (51/58 families) using direct DNA sequencing
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Identification of gene interactions associated with disease from gene expression data using synergy networks.
PMID 18234101 · PMC2258206 · BMC systems biology · 2008 · 8 claims · 4 setups
Synergy of a gene pair with respect to disease, defined as I(G1,G2;C) - [I(G1;C)+I(G2;C)], identifies gene pairs that interact cooperatively with respect to a phenotype rather than independently.
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Epidermal growth factor receptor structural alterations in gastric cancer.
PMID 18199332 · PMC2244615 · BMC cancer · 2008 · 8 claims · 4 setups
EGFR structural alterations are rare in gastric carcinoma
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Conserved elements with potential to form polymorphic G-quadruplex structures in the first intron of human genes.
PMID 18187510 · PMC2275096 · Nucleic acids research · 2008 · 8 claims · 6 setups
G-richness downstream of the TSS is strand-biased, concentrated on the nontemplate strand, with a peak at +200 to +300 bp
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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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Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.
PMID 20029656 · PMC2796875 · Molecular vision · 2009 · 6 claims · 5 setups
No disease-causing mutations in COL4A3 or COL4A4 were found to be related to KC.
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Meta-analysis of inter-species liver co-expression networks elucidates traits associated with common human diseases.
PMID 20019805 · PMC2787626 · PLoS computational biology · 2009 · 8 claims · 8 setups
A novel semi-parametric meta-analysis method (based on a gene-centric Glass's d effect size) outperforms existing parametric and non-parametric meta-analysis methods at identifying functionally coherent gene pairs across species.
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A taxonomy of epithelial human cancer and their metastases.
PMID 20017941 · PMC2806369 · BMC medical genomics · 2009 · 8 claims · 6 setups
Unsupervised hierarchical clustering of 1566 primary epithelial tumors yields large tissue-enriched clusters (breast, colon/GI, lung, ovary, kidney) plus smaller prostate, thyroid-kidney, and mixed clusters
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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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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