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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Autoantibody profiling for the study and treatment of autoimmune disease.
PMID 12223102 · PMC128938 · Arthritis research · 2002 · 8 claims · 8 setups
Custom-fabricated antigen microarrays (spotted on poly-L-lysine-coated glass slides) enable multiplex profiling of autoantibody responses in autoimmune disease sera.
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Comparative genomics of Helicobacter pylori isolates recovered from ulcer disease patients in England.
PMID 15916705 · PMC1180443 · BMC microbiology · 2005 · 8 claims · 8 setups
H. pylori strains from England are genetically distinct from strains obtained from other countries based on virulence gene analysis (cagT, cagE, cagA, vacA, iceA, oipA, babB)
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Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.
PMID 16824219 · PMC1534050 · BMC neurology · 2006 · 7 claims · 5 setups
The C282Y variant allele of HFE is significantly overrepresented in PD patients compared to controls, suggesting it confers higher risk for PD
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Proteomic analysis of nipple aspirate fluid from women with early-stage breast cancer using isotope-coded affinity tags and tandem mass spectrometry reveals differential expression of vitamin D binding protein.
PMID 16542425 · PMC1431555 · BMC cancer · 2006 · 8 claims · 5 setups
ICAT tandem MS can identify and quantify differences in specific protein expression between NAF from tumor-bearing and disease-free breasts
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Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups
Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.
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MutDB: update on development of tools for the biochemical analysis of genetic variation.
PMID 17827212 · PMC2238958 · Nucleic acids research · 2008 · 7 claims · 5 setups
MutDB integrates dbSNP and Swiss-Prot genetic variation data with protein structural information, functional disruption prediction scores, and clinical phenotype links (OMIM, dbGAP)
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Genome bioinformatic analysis of nonsynonymous SNPs.
PMID 17708757 · PMC1978506 · BMC bioinformatics · 2007 · 8 claims · 8 setups
Structure- and sequence-based prediction tools can generally distinguish disease-causing mutations from neutral ones
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Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.
PMID 18797263 · PMC4867177 · Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology · 2008 · 8 claims · 8 setups
A patient with the PS-1 G206A mutation developed prominent extrapyramidal signs (EPS) shortly after starting the atypical neuroleptic risperidone, which resolved completely after the drug was discontinued.
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Short tandem repeats in human exons: a target for disease mutations.
PMID 18789129 · PMC2543027 · BMC genomics · 2008 · 8 claims · 6 setups
STRs are present in exons of 92% of known human genes, unlike longer tandem repeats which are rare in exons
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Comparative Toxicogenomics Database: a knowledgebase and discovery tool for chemical-gene-disease networks.
PMID 18782832 · PMC2686584 · Nucleic acids research · 2009 · 8 claims · 5 setups
CTD is a manually curated knowledgebase that integrates chemical-gene interactions, chemical-disease relationships, and gene-disease relationships into a chemical-gene-disease triad
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A comparison of random sequence reads versus 16S rDNA sequences for estimating the biodiversity of a metagenomic library.
PMID 18682527 · PMC2532719 · Nucleic acids research · 2008 · 8 claims · 7 setups
Biodiversity observed by RSR analysis is consistent with that obtained by 16S rDNA analysis
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Identification of deleterious non-synonymous single nucleotide polymorphisms using sequence-derived information.
PMID 18588693 · PMC2446391 · BMC bioinformatics · 2008 · 8 claims · 5 setups
A decision tree built on 10 selected sequence-derived features classifies SAPs as Disease or Polymorphism with 82.6% accuracy and 0.607 MCC in cross-validation.
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Identifying alternative hyper-splicing signatures in MG-thymoma by exon arrays.
PMID 18545673 · PMC2409220 · PloS one · 2008 · 8 claims · 6 setups
An integrative ad-hoc functional GO analysis combining threshold-based (Fisher exact/hypergeometric) and threshold-free (Kolmogorov-Smirnov) statistics, plus term-to-parent comparisons, detects disease-relevant splicing events from exon array data.
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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
PMID 18204449 · PMC2684619 · Nature genetics · 2008 · 8 claims · 8 setups
Mutations in GLE1, an mRNA export mediator, cause LCCS1
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Nutrigenomics in cardiovascular medicine.
PMID 20031645 · PMC2810265 · Circulation. Cardiovascular genetics · 2009 · 8 claims · 8 setups
The main problem facing Nutrigenomics is the lack of replication of initially reported gene-diet interactions, which precludes their present application in CVD prevention and treatment.
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Multi-organ expression profiling uncovers a gene module in coronary artery disease involving transendothelial migration of leukocytes and LIM domain binding 2: the Stockholm Atherosclerosis Gene Expression (STAGE) study.
PMID 19997623 · PMC2780352 · PLoS genetics · 2009 · 8 claims · 6 setups
Functionally associated gene modules, not individual genes, underlie CAD development and can be identified via multi-organ expression clustering
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PCP consensus sequences of flaviviruses: correlating variance with vector competence and disease phenotype.
PMID 19969003 · PMC2822003 · Journal of molecular biology · 2010 · 7 claims · 7 setups
PCP-consensus sequences of E protein show insertions/deletions that distinguish tick-borne, mosquito-borne, no-known-vector (NKV), and yellow fever virus (YFV) Flaviviruses
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Technical challenges in using human induced pluripotent stem cells to model disease.
PMID 19951687 · PMC2921621 · Cell stem cell · 2009 · 8 claims · 8 setups
hiPSCs generated from patient somatic cells (skin, blood) can be differentiated into disease-relevant cell types to model disease pathogenesis in vitro
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Genome-scale approaches to the epigenetics of common human disease.
PMID 19844740 · PMC3107986 · Virchows Archiv : an international journal of pathology · 2010 · 7 claims · 8 setups
DNA methylation is a stable, mitotically heritable epigenetic mark faithfully propagated by DNMT1 acting on hemimethylated DNA during replication
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Mutation analysis in primary immunodeficiency diseases: case studies.
PMID 19841577 · PMC2774237 · Current opinion in allergy and clinical immunology · 2009 · 8 claims · 8 setups
Genomic DNA Sanger sequencing is the standard first-line approach for identifying PIDD-causing mutations but has limitations that can yield false-negative or false-positive results