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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Relationships between emm and multilocus sequence types within a global collection of Streptococcus pyogenes.
PMID 18405369 · PMC2359762 · BMC microbiology · 2008 · 8 claims · 5 setups
emm type is often a poor marker for clonal genetic background across the global S. pyogenes collection
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A single-step sequencing method for the identification of Mycobacterium tuberculosis complex species.
PMID 18618024 · PMC2453075 · PLoS neglected tropical diseases · 2008 · 7 claims · 8 setups
ETR-D sequencing allows accurate, single-step identification of MTC species, circumventing the expensive polyphasic approach.
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Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups
Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings
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PathogenMIPer: a tool for the design of molecular inversion probes to detect multiple pathogens.
PMID 17105657 · PMC1657037 · BMC bioinformatics · 2006 · 6 claims · 5 setups
PathogenMIPer designs unique, target-specific MIP probes, assembling all probe components (target-specific sequences, barcodes, universal primers, restriction sites) into ready-to-order probes for any genome.
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Multiplexed genetic analysis using an expanded genetic alphabet.
PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups
MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h
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Gefitinib for non-small-cell lung cancer patients with epidermal growth factor receptor gene mutations screened by peptide nucleic acid-locked nucleic acid PCR clamp.
PMID 17106442 · PMC2360739 · British journal of cancer · 2006 · 5 claims · 4 setups
NSCLC patients with EGFR mutations detected by PNA-LNA PCR clamp show significantly higher response rates and longer survival with gefitinib than EGFR wild-type patients.
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Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
PMID 17133256 · PMC2670452 · European journal of human genetics : EJHG · 2007 · 7 claims · 3 setups
Expert clinical-radiological preselection significantly increases mutation detection rate in MED
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Lack of Toll-like receptor 4 and 2 polymorphisms in Korean patients with bacteremia.
PMID 17179672 · PMC2721950 · Journal of Korean medical science · 2006 · 7 claims · 4 setups
No TLR4 Asp299Gly or Thr399Ile polymorphisms were detected in either bacteremia patients or healthy volunteers
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Environmental Burkholderia cepacia complex isolates in human infections.
PMID 17552100 · PMC2725883 · Emerging infectious diseases · 2007 · 6 claims · 4 setups
More than 20% of clinical Bcc isolates examined are indistinguishable by MLST from environmental isolates, linking the natural environment to emergence of clinical infections
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Genetic diversity of clinical isolates of Bacillus cereus using multilocus sequence typing.
PMID 18990211 · PMC2585095 · BMC microbiology · 2008 · 8 claims · 7 setups
The 55 clinical B. cereus isolates were phylogenetically diverse, comprising 38 sequence types (STs) distributed across two of three previously described clades.
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Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.
PMID 18951463 · PMC2785447 · Human mutation · 2008 · 5 claims · 5 setups
R1070P and R1070W CFTR mutants show apical membrane localization/insertion defects consistent with their associated disease severity
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The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups
The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)
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Multilocus sequence typing supports the hypothesis that Ochrobactrum anthropi displays a human-associated subpopulation.
PMID 20021660 · PMC2810298 · BMC microbiology · 2009 · 8 claims · 6 setups
A novel Multi-Locus Sequence Typing (MLST) scheme for O. anthropi was developed for the first time, based on 7 genes (3490 nucleotides) evolving mostly by neutral mutations
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A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.
PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups
A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family
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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.
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Public health genomics approach to type 2 diabetes.
PMID 18971439 · PMC2570384 · Diabetes · 2008 · 7 claims · 3 setups
Combining GWAS-discovered genetic variants provides only weak predictive ability for type 2 diabetes and adds little beyond established clinical risk factors (age, sex, BMI).
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Has reproduction
Unlocking the microbial studies through computational approaches: how far have we reached?
PMID 36920617 · PMC10016191 · Environmental science and pollution research international · 2023 · 8 claims · 8 setups
Metagenomics enables culture-independent study of microbial communities directly from their natural environments, bypassing the need for clonal isolation.
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Digital sorting of complex tissues for cell type-specific gene expression profiles.
PMID 23497278 · PMC3626856 · BMC bioinformatics · 2013 · 8 claims · 8 setups
The Digital Sorting Algorithm (DSA) deconvolves mixed tissue expression into cell type-specific profiles using only marker genes, without requiring prior knowledge of cell type frequencies or in vitro pure-cell profiles.
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Detection of rare mutant K-ras DNA in a single-tube reaction using peptide nucleic acid as both PCR clamp and sensor probe.
PMID 16432256 · PMC1345699 · Nucleic acids research · 2006 · 8 claims · 5 setups
A 17mer PNA spanning K-ras codons 12/13 can serve as both PCR clamp and sensor probe in a single-tube reaction, differentiating all 12 possible point mutations from wild-type by melting temperature shift
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Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.
PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups
JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.