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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Visual exploration of genetic association with voxel-based imaging phenotypes in an MCI/AD study.
PMID 19963597 · PMC2928997 · Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference · 2009 · 6 claims · 4 setups
Developed an imaging genomic browsing system allowing whole genome and entire brain analyses via visual exploration
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A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I.
PMID 19956413 · PMC2786890 · Molecular vision · 2009 · 7 claims · 4 setups
A novel missense mutation (1565T→A) in exon 12 of TGFBI, causing an I522N amino acid substitution, causes lattice corneal dystrophy type I in the studied Chinese family.
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High mitochondrial DNA stability in B-cell chronic lymphocytic leukemia.
PMID 19924307 · PMC2775629 · PloS one · 2009 · 7 claims · 5 setups
mtDNA control-region instability is not the primary causal factor in B-CLL
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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia
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Genotyping of genetically monomorphic bacteria: DNA sequencing in Mycobacterium tuberculosis highlights the limitations of current methodologies.
PMID 19915672 · PMC2772813 · PloS one · 2009 · 8 claims · 8 setups
MLSA of 89 genes across 108 global MTBC strains yields a single, highly robust phylogeny with virtually no homoplasy, congruent across parsimony, NJ, ML, and Bayesian methods.
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Correlation of microsynteny conservation and disease gene distribution in mammalian genomes.
PMID 19909546 · PMC2779822 · BMC genomics · 2009 · 7 claims · 8 setups
Density of mouse orthologs of human disease genes correlates with regions of conserved microsynteny in the mouse genome
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Variation in genetic admixture and population structure among Latinos: the Los Angeles Latino eye study (LALES).
PMID 19903357 · PMC3087512 · BMC genetics · 2009 · 7 claims · 6 setups
LALES Latinos show strong evidence of recent population admixture, primarily from Native American and European ancestries with smaller Asian and African contributions.
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Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study.
PMID 19861964 · PMC2778539 · British journal of cancer · 2009 · 7 claims · 8 setups
BRAF mutations can be detected in serum cfDNA of advanced melanoma patients using an ARMS allele-specific PCR assay
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Genomic diversity among drug sensitive and multidrug resistant isolates of Mycobacterium tuberculosis with identical DNA fingerprints.
PMID 19823582 · PMC2756628 · PloS one · 2009 · 8 claims · 8 setups
M. tuberculosis isolates with identical DNA fingerprints can harbour substantial genomic diversity at the whole-genome level
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Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
PMID 19786220 · PMC3309400 · Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2009 · 7 claims · 5 setups
SLC26A4 mutations are highly prevalent in Chinese patients with SNHL and EVA, with mutations found in 100% (32/32) of subjects.
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The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.
PMID 19784393 · PMC2751802 · Molecular vision · 2009 · 6 claims · 4 setups
A novel MYOC missense mutation, Y371D (1111t→g), causes an aggressive, autosomal dominant form of JOAG in this family.
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Comparative genome and phenotypic analysis of Clostridium difficile 027 strains provides insight into the evolution of a hypervirulent bacterium.
PMID 19781061 · PMC2768977 · Genome biology · 2009 · 8 claims · 7 setups
The 027 genomes (CD196 and R20291) contain 234 additional genes compared to strain 630, spread across at least 50 regions of genetic difference, including a phage island, transposon genes, two-component response regulators, drug resistance genes and transporters
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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PMID 19763161 · PMC2730533 · PLoS genetics · 2009 · 7 claims · 8 setups
A heterozygous SCN9A missense mutation (p.N641Y) cosegregates with febrile seizures in the large K4425 family and is absent from ethnically matched population controls
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Swarm intelligence based wavelet coefficient feature selection for mass spectral classification: an application to proteomics data.
PMID 19733729 · PMC2748225 · Analytica chimica acta · 2009 · 8 claims · 4 setups
ACA-based wavelet coefficient feature selection can achieve up to 100% classification accuracy on training, validating, and independent testing sets using only 5 selected features.
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Ontological Discovery Environment: a system for integrating gene-phenotype associations.
PMID 19733230 · PMC2783409 · Genomics · 2009 · 8 claims · 8 setups
ODE is a web-based system for storing, sharing, retrieving and analyzing phenotype-centered genomic data sets across species and experimental systems
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Neuroplasticity, psychosocial genomics, and the biopsychosocial paradigm in the 21st century.
PMID 19728478 · PMC2933650 · Health & social work · 2009 · 8 claims · 8 setups
Recent neuroplasticity and psychosocial genomics research validates and elaborates Engel's biopsychosocial paradigm by revealing mechanisms linking psychosocial experience to neurobiology.
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Research Spotlight: New multiparameter bioanalytical technologies for applications in personalized medicine, drug discovery and fundamental biology.
PMID 21083072 · PMC3106349 · Bioanalysis · 2009 · 8 claims · 8 setups
High-density arrays of silicon photonic microring resonators enable label-free, multiplexed detection of DNA, miRNA, and protein biomarkers from a single small-volume sample
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Proteomic characterization of HIV-modulated membrane receptors, kinases and signaling proteins involved in novel angiogenic pathways.
PMID 19712456 · PMC2754444 · Journal of translational medicine · 2009 · 7 claims · 5 setups
31 HIV-modulated cellular proteins were identified as functionally associated with signaling events involved in angiogenesis
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MLST clustering of Campylobacter jejuni isolates from patients with gastroenteritis, reactive arthritis and Guillain-Barré syndrome.
PMID 19702866 · PMC3985121 · Journal of applied microbiology · 2010 · 8 claims · 4 setups
Danish C. jejuni isolates from gastroenteritis, RA and GBS patients are highly genetically diverse, comprising 51 STs within 18 clonal complexes among 122 isolates.
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Rapid detection of ERG11 gene mutations in clinical Candida albicans isolates with reduced susceptibility to fluconazole by rolling circle amplification and DNA sequencing.
PMID 19682357 · PMC2782262 · BMC microbiology · 2009 · 8 claims · 5 setups
The RCA assay correctly identified all ERG11 mutations in eight 'reference' azole-resistant C. albicans isolates with known mutations.