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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Has reproduction · 44
Detecting DNA modifications from SMRT sequencing data by modeling sequence context dependence of polymerase kinetic.
PMID 23516341 · PMC3597545 · PLoS computational biology · 2013 · 8 claims · 7 setups
Local sequence context strongly determines position-specific polymerase kinetic rate: roughly 80% of IPD variation is explained by a 10 bp context (7 bases upstream, 2 bases downstream of the incorporation site), saturating at 7 bases upstream.
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Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
PMID 19744353 · PMC2749023 · BMC medical genetics · 2009 · 8 claims · 6 setups
Gross mutations (exon deletions and intragenic insertions) are a frequent, not rare, cause of AOA2
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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.
PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups
Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.
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Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours.
PMID 17940511 · PMC2360241 · British journal of cancer · 2007 · 8 claims · 4 setups
Treatment of neuroblastoma cell lines with the HDAC inhibitor trichostatin A (TSA) increased transcription of ERRFI1, PIK3CD, RBP7 and CASZ1, indicating possible epigenetic downregulation of these genes in NB
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Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma.
PMID 17299390 · PMC2360060 · British journal of cancer · 2007 · 8 claims · 6 setups
DDR1 is significantly upregulated in NSCLC tumour tissue compared with matched normal lung tissue
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Glucocorticoid resistance in a multiple myeloma cell line is regulated by a transcription elongation block in the glucocorticoid receptor gene (NR3C1).
PMID 19133980 · PMC4303606 · British journal of haematology · 2009 · 7 claims · 6 setups
Downregulation of GR mRNA in the resistant myeloma cell line is caused by a block to transcriptional elongation within intron B of the GR gene
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Plasmodium vivax dhfr and dhps mutations in isolates from Madagascar and therapeutic response to sulphadoxine-pyrimethamine.
PMID 18302746 · PMC2268703 · Malaria journal · 2008 · 6 claims · 7 setups
pvdhfr and pvdhps mutations are common in Malagasy P. vivax isolates, with pvdhfr mutants far more prevalent than pvdhps mutants
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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
PMID 20003452 · PMC2801500 · BMC medical genetics · 2009 · 8 claims · 5 setups
TCOF1 transcript levels are significantly reduced (~18%) in leucocytes of TCS patients compared to controls
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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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11q13 amplification status and human papillomavirus in relation to p16 expression defines two distinct etiologies of head and neck tumours.
PMID 17003776 · PMC2360598 · British journal of cancer · 2006 · 8 claims · 7 setups
HPV-positive HNSCC tumours are significantly less likely to carry 11q13 amplification than HPV-negative tumours
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Genomic sequencing of the severe acute respiratory syndrome-coronavirus.
PMID 16916263 · PMC7121524 · Methods in molecular biology (Clifton, N.J.) · 2006 · 7 claims · 7 setups
PCR-based amplification and direct sequencing of SARS-CoV genome fragments is feasible from uncultured clinical specimens (serum, nasopharyngeal aspirate, stool), avoiding culture-derived artifacts and biohazard risk.
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Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study.
PMID 16672055 · PMC1468397 · BMC medical genetics · 2006 · 6 claims · 5 setups
Molecular beacon-based real-time PCR assays for p.C282Y and p.H63D achieve complete genotype concordance with restriction enzyme digestion and direct sequencing
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Increased levels of human beta-defensins mRNA in sexually HIV-1 exposed but uninfected individuals.
PMID 18991618 · PMC4126611 · Current HIV research · 2008 · 8 claims · 5 setups
ESN individuals show significantly higher HBD-2 and HBD-3 mRNA copy numbers in oral mucosa than healthy controls (HC)
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Associations between hepatitis B virus genotype and mutants and the risk of hepatocellular carcinoma.
PMID 18695135 · PMC2518166 · Journal of the National Cancer Institute · 2008 · 8 claims · 7 setups
HBV genotype C is an independent risk factor for HCC compared with genotype B
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SNP-specific extraction of haplotype-resolved targeted genomic regions.
PMID 18611953 · PMC2528194 · Nucleic acids research · 2008 · 6 claims · 4 setups
SNP-specific extraction isolates haploid genomic DNA flanking targeted SNPs by hybridizing an allele-specific oligo, enzymatically extending it with biotinylated nucleotides, and capturing the tagged allele with streptavidin-coated magnetic particles.
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Limited copy number-high resolution melting (LCN-HRM) enables the detection and identification by sequencing of low level mutations in cancer biopsies.
PMID 19811662 · PMC2766370 · Molecular cancer · 2009 · 7 claims · 6 setups
LCN-HRM enables detection and sequencing-based characterisation of low-level mutations that are undetectable by direct sequencing alone
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Expanding CEP290 mutational spectrum in ciliopathies.
PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups
A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.
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cDNA sequencing improves the detection of P53 missense mutations in colorectal cancer.
PMID 19671129 · PMC2731783 · BMC cancer · 2009 · 8 claims · 6 setups
cDNA sequencing detects P53 missense mutations in colorectal cancer more frequently and reliably than DNA sequencing
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Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
PMID 18680191 · PMC3708306 · American journal of medical genetics. Part A · 2008 · 8 claims · 3 setups
A novel heterozygous SCN1A frameshift mutation, c.3608delA (p.Gln1203HisfsX4), was identified in a postmortem SMEI patient, located in the D2-D3 intracellular linker of NaV1.1.
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Has reproduction · 50
Comparative analysis of circular RNAs between soybean cytoplasmic male-sterile line NJCMS1A and its maintainer NJCMS1B by high-throughput sequencing.
PMID 30208848 · PMC6134632 · BMC genomics · 2018 · 8 claims · 7 setups
2867 circRNAs were identified in soybean flower buds via high-throughput sequencing with RNase R enrichment, of which 1009 were differentially expressed between NJCMS1A and NJCMS1B