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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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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Calibrating the performance of SNP arrays for whole-genome association studies.
PMID 18584036 · PMC2432039 · PLoS genetics · 2008 · 8 claims · 7 setups
Previous SNP array genetic coverage estimates are inflated due to SNP overfitting and sample overfitting, since they were evaluated on the same HapMap SNPs/individuals used to design the arrays.
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A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
PMID 15953877 · PMC2782211 · Journal of Korean medical science · 2005 · 7 claims · 8 setups
The patient is a compound heterozygote for two SLC37A4 mutations: c.1042_1043delCT (L348fs) and c.443C>T (A148V)
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Fucosylated glycoproteins as markers of liver disease.
PMID 19126969 · PMC3827789 · Disease markers · 2008 · 8 claims · 6 setups
Core alpha 1,6-linked fucosylation of AFP (AFP-L3) is increased in HCC and is a more specific marker of HCC than total AFP
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Cardiovascular genomics, personalized medicine, and the National Heart, Lung, and Blood Institute: part I: the beginning of an era.
PMID 20031542 · PMC3097376 · Circulation. Cardiovascular genetics · 2008 · 7 claims · 8 setups
Rare Mendelian mutations (e.g., in sarcomere genes, ion channels, FBN1, LMNA) cause specific rare cardiovascular conditions (hypertrophic/dilated cardiomyopathy, long-QT syndrome, thoracic aortic aneurysm, progeria) but explain little of common CVD risk.
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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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Has reproduction · 88
pwrEWAS: a user-friendly tool for comprehensive power estimation for epigenome wide association studies (EWAS).
PMID 31035919 · PMC6489300 · BMC bioinformatics · 2019 · 8 claims · 8 setups
pwrEWAS is a user-friendly tool for comprehensive power estimation for two-group EWAS comparisons using Illumina Human Methylation BeadChip data.
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Has reproduction
Thermogenic adipocytes promote HDL turnover and reverse cholesterol transport.
PMID 28422089 · PMC5399294 · Nature communications · 2017 · 8 claims · 8 setups
Pharmacological (CL316,243) activation of thermogenic adipocytes increases HDL-cholesterol and reduces atherosclerosis in E3L.CETP mice, with HDL-cholesterol an independent predictor of atherosclerosis
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Has reproduction · 97
Exosomal microRNA miR-92a concentration in serum reflects human brown fat activity.
PMID 27117818 · PMC4853423 · Nature communications · 2016 · 8 claims · 8 setups
Brown and beige adipocytes release exosomes, and thermogenic activation increases exosome release both in vitro and in vivo.
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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