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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Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
PMID 18688868 · PMC2586182 · American journal of medical genetics. Part A · 2008 · 8 claims · 5 setups
A novel missense mutation c.2576G→A (p.R859Q) in WFS1 exon 8 causes autosomal dominant LFSNHL in this American family
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Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups
Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21
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Human QTL linkage mapping.
PMID 18668207 · PMC2761031 · Genetica · 2009 · 8 claims · 6 setups
Human QTL linkage mapping remains a productive approach for complex traits despite the perception that it does not work, and will continue to be productive especially combined with RNA expression QTLs and dense SNP panels
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Human genomic variation.
PMID 11178257 · PMC138878 · Genome biology · 2000 · 8 claims · 7 setups
Lewontin's 1972 analysis of 17 blood-group/protein loci found 85% of human genetic variation lies within individuals of a nation/tribe, 8% between populations within races, and only 6% between races
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Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research.
PMID 17941974 · PMC2175509 · BMC genetics · 2007 · 8 claims · 7 setups
SLC6A1 shows low levels of LD and an absence of major LD blocks across all five populations studied
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Implications of gene-behavior interactions: prevention and intervention for obesity.
PMID 19037218 · PMC2703301 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 8 setups
Obesity has a strong genetic basis and multifactorial etiology, not attributable solely to food abundance and lack of exercise opportunity
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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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Public health genomics: translating obesity genomics research into population health benefits.
PMID 19037221 · PMC2736102 · Obesity (Silver Spring, Md.) · 2008 · 8 claims · 6 setups
Obesity genomics research is mostly in the discovery phase (T1); a four-phase translational framework (T1-T4) is needed to move discoveries to population health impact
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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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A pharmacogenetics study of the human glucuronosyltransferase UGT1A4.
PMID 19890225 · PMC6177227 · Pharmacogenetics and genomics · 2009 · 7 claims · 6 setups
Extensive sequencing of UGT1A4 (promoter to exon 1+2000bp) identified numerous novel polymorphisms: 13 intronic, 39 promoter, and 14 exonic variants (10 causing amino acid changes)
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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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The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.
PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups
PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs
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Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy.
PMID 16336695 · PMC1325232 · Respiratory research · 2005 · 6 claims · 8 setups
There is overall little sequence variation in the conserved non-coding elements (CNEs) on 5q31, including none detected in CNE-B/CNS-1
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Targeted capture and massively parallel sequencing of 12 human exomes.
PMID 19684571 · PMC2844771 · Nature · 2009 · 8 claims · 8 setups
Targeted exome capture combined with massively parallel sequencing sensitively and specifically identifies rare and common variants across >300 Mb of coding sequence
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Population genomics of the Wolbachia endosymbiont in Drosophila melanogaster.
PMID 23284297 · PMC3527207 · PLoS genetics · 2012 · 8 claims · 8 setups
Wolbachia infection status can be accurately predicted in silico from whole-genome shotgun sequence of individual host strains, showing 99% concordance with diagnostic PCR.