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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Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium.
PMID 20044523 · PMC2923092 · Stroke · 2010 · 8 claims · 6 setups
SNP rs2208454 in intron 3 of MACROD2 (near FLRT3, chr20p12) is associated with lower risk of covert MRI-infarcts (OR=0.76, p=4.64x10-7)
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Has reproduction
Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.
PMID 35922433 · PMC9349177 · Nature communications · 2022 · 8 claims · 7 setups
Genome-wide association of six CMR-derived aortic traits in up to 32,590 UK Biobank participants identifies 102 loci (including 27 novel associations) for aortic distensibility and area.
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Has reproduction · 45
Identifying and classifying trait linked polymorphisms in non-reference species by walking coloured de bruijn graphs.
PMID 23536903 · PMC3607606 · PloS one · 2013 · 8 claims · 9 setups
Bubbleparse detects sequence variants directly from NGS reads without a reference genome, using the coloured de Bruijn graph implementation of Cortex plus a new depth-first bubble-finding module.
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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
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Searching for genes underlying behavior: lessons from circadian rhythms.
PMID 18988844 · PMC3744585 · Science (New York, N.Y.) · 2008 · 8 claims · 5 setups
Forward genetic mutagenesis screens successfully identified the molecular components of the circadian clock across Drosophila, Neurospora, cyanobacteria, Arabidopsis, and mouse.
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Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists.
PMID 16351744 · PMC1866390 · BMC bioinformatics · 2005 · 5 claims · 3 setups
OMIM Clinical Synopsis free-text phenotype and location names can be normalized and hierarchically structured into a controlled vocabulary suitable for computational analysis
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Has reproduction · 76
A Deeper Insight into Evolutionary Patterns and Phylogenetic History of ASFV Epidemics in Sardinia (Italy) through Extensive Genomic Sequencing.
PMID 34696424 · PMC8539718 · Viruses · 2021 · 7 claims · 8 setups
58 new whole genomes of Sardinian ASFV isolates were sequenced, the largest ASFV whole-genome sequencing effort to date
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Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.
PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups
TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11
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Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.
PMID 18433462 · PMC2632602 · Journal of thrombosis and haemostasis : JTH · 2008 · 6 claims · 6 setups
A novel 14 bp deletion in intervening sequence L (putative branch point of intron L), which likely impairs PROS1 pre-mRNA splicing, was found in all family members with low free protein S.
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Advances in breast cancer: pathways to personalized medicine.
PMID 19088015 · PMC4535810 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2008 · 8 claims · 8 setups
Germline BRCA1/BRCA2 mutations are strong predictors of breast and ovarian cancer, conferring a 40-80% lifetime risk of breast cancer
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Proteomic solutions for analytical challenges associated with alcohol research.
PMID 23584870 · PMC3860482 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 7 claims · 4 setups
Protein-level meta-analyses analogous to the transcriptome meta-analysis by Mulligan et al. (2006) are not yet possible because proteins lack a uniform sample preparation/analysis method and span up to 8 orders of magnitude in abundance.
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Ab initio identification of human microRNAs based on structure motifs.
PMID 18088431 · PMC2238772 · BMC bioinformatics · 2007 · 8 claims · 7 setups
MiRPred predicts miRNA precursors ab initio using only predicted secondary structure motifs, ignoring nucleotide sequence
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Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.
PMID 17218254 · PMC1885944 · Cell · 2007 · 8 claims · 8 setups
A semidominant ENU-induced S140G mutation in α-1 tubulin (Tuba1) causes hyperactivity and impaired neuronal migration in Jna/+ mice
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Association of the GSTP1 and NQO1 polymorphisms and head and neck squamous cell carcinoma risk.
PMID 17179690 · PMC2721932 · Journal of Korean medical science · 2006 · 6 claims · 1 setups
Allele/genotype frequencies of GSTP1 Ile105Val and NQO1 Trp139Arg did not differ significantly between HNSCC cases and controls overall
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A genomic pathway approach to a complex disease: axon guidance and Parkinson disease.
PMID 17571925 · PMC1904362 · PLoS genetics · 2007 · 8 claims · 5 setups
A genomic pathway approach using axon-guidance pathway SNPs strongly predicts PD susceptibility, survival free of PD, and age at onset of PD
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Brain-specific proteins decline in the cerebrospinal fluid of humans with Huntington disease.
PMID 18984577 · PMC2649809 · Molecular & cellular proteomics : MCP · 2009 · 8 claims · 6 setups
Brain-specific proteins are 1.8 times more likely to be observed in CSF than in plasma
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Has reproduction · 79
Decoding and reconstructing disease relations between dry eye and depression: a multimodal investigation comprising meta-analysis, genetic pathways and Mendelian randomization.
PMID 38548265 · PMC11954816 · Journal of advanced research · 2025 · 7 claims · 8 setups
Meta-analysis confirms a positive bidirectional association between DED and DEP (DED patients have increased DEP prevalence and vice versa).
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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 newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.
PMID 17596672 · PMC2693656 · Journal of Korean medical science · 2007 · 7 claims · 8 setups
Two members of a Korean family (mother and son) with generalized RTH harbor a novel insertion mutation, 1358_1359insC, in exon 10 of the THRB gene, causing a frameshift (Leu454PhefsX11)
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Guar gum and similar soluble fibers in the regulation of cholesterol metabolism: current understandings and future research priorities.
PMID 19183750 · PMC2605338 · Vascular health and risk management · 2008 · 8 claims · 8 setups
Soluble fiber consumption consistently reduces plasma total and LDL cholesterol in animal models and human clinical trials