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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Emerging strategies and applications of pharmacogenomics.
PMID 15606999 · PMC3500198 · Human genomics · 2004 · 7 claims · 7 setups
Effective pharmacogenomics requires infrastructure including informed consent processes, accurate phenotypic data collection, high-throughput genotyping technology, and integrated information technology systems.
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A common haplotype within the PON1 promoter region is associated with sporadic ALS.
PMID 18618303 · PMC2739087 · Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases · 2008 · 7 claims · 6 setups
Two SNPs (rs987539 in PON2 intron 6 and rs2074351 upstream of PON1 exon 2) within the paraoxonase gene cluster are significantly associated with susceptibility to sporadic ALS
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Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups
NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations
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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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Genomic views of distant-acting enhancers.
PMID 19741700 · PMC2923221 · Nature · 2009 · 8 claims · 8 setups
Meta-analysis of ~1200 top GWAS SNPs found that in 40% of cases (472/1170) no known exons overlap the linked SNP or its haplotype block, implying noncoding variation causally contributes to many traits.
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Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear beta-catenin expression.
PMID 14970870 · PMC3215949 · British journal of cancer · 2004 · 8 claims · 7 setups
Nuclear β-catenin expression in GEJ adenocarcinoma cell lines correlates with enhanced TCF-mediated reporter gene transcription
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Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.
PMID 19714378 · PMC2854348 · Neurogenetics · 2010 · 8 claims · 5 setups
A missense mutation (R560Q) in the SPAST gene's ATPase domain causes bovine spinal dysmyelination
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SuperCYP: a comprehensive database on Cytochrome P450 enzymes including a tool for analysis of CYP-drug interactions.
PMID 19934256 · PMC2808967 · Nucleic acids research · 2010 · 8 claims · 6 setups
SuperCYP is a comprehensive relational database aggregating CYP enzyme, drug metabolism, SNP/mutation, and structural information from literature and web resources.
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Has reproduction · 54
A 14-bp motif in the KIT active promoter region is critical for melanin accumulation in yaks, mice, and humans.
PMID 40629379 · PMC12239316 · BMC biology · 2025 · 8 claims · 7 setups
A 14-bp deletion in the KIT gene promoter region is associated with the all-white phenotype in yaks, identified via GWAS
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Has reproduction · 100
Constructing eRNA-mediated gene regulatory networks to explore the genetic basis of muscle and fat-relevant traits in pigs.
PMID 38594607 · PMC11003151 · Genetics, selection, evolution : GSE · 2024 · 8 claims · 8 setups
H3K27ac ChIP-seq and RNA-seq were used to construct eRNA expression profiles across multiple tissues in Enshi Black (ES) and Duroc pigs, revealing tissue-level eRNA regulatory landscapes
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Personalized genomic medicine with a patchwork, partially owned genome.
PMID 18449389 · PMC2347364 · The Yale journal of biology and medicine · 2007 · 8 claims · 6 setups
Structural variants (CNVs) cover as much as 20 percent of the human genome length and are present in phenotypically normal individuals without apparent negative consequences.
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Gene-environment interaction and obesity.
PMID 19019037 · PMC3683966 · Nutrition reviews · 2008 · 8 claims · 8 setups
Obesity susceptibility is largely genetically determined but requires environmental exposure (excess energy intake, low fiber, physical inactivity) to manifest phenotypically.
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Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.
PMID 19818657 · PMC2818284 · Blood cells, molecules & diseases · 2010 · 8 claims · 5 setups
Common TMPRSS6 polymorphisms (K253E, V736A) are not risk factors for iron deficiency anemia in the general population
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Genetic variants of chemokine receptor CCR7 in patients with systemic lupus erythematosus, Sjogren's syndrome and systemic sclerosis.
PMID 17587445 · PMC1913537 · BMC genetics · 2007 · 6 claims · 4 setups
CCR7 gene variants occur at extremely low frequency (allelic frequencies ≤5%) in the German population
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Pharmacogenomics of gemcitabine: can genetic studies lead to tailor-made therapy?
PMID 17595663 · PMC2360307 · British journal of cancer · 2007 · 8 claims · 14 setups
A SNP in the cytidine deaminase (CDA) gene (208G>A, haplotype *3) decreases gemcitabine clearance, increases Cmax/AUC, and increases neutropenia risk when gemcitabine is combined with platinum drugs or 5-FU