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).

• Detection of point mutations associated with antibiotic resistance in Pseudomonas aeruginosa.

  PMID 19656662 · PMC2744841 · International journal of antimicrobial agents · 2009 · 8 claims · 6 setups

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  Pyrosequencing™ can substitute for traditional sequencing methods, providing rapid (<1 h) and reliable detection of antibiotic resistance mutations in P. aeruginosa

  clinical extracted pcr fluoroquinolone-resistant kirby–bauer multiplex sanger

• Epimutations driven by RNAi or heterochromatin evoke transient antimicrobial drug resistance in pathogenic Mucor fungi.

  PMID 41628159 · PMC12863538 · PLoS biology · 2026 · 8 claims · 8 setups

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  In M. bainieri, most (90%) FK506-resistant isolates are unstable/transient and revert to drug sensitivity without any detectable DNA mutation

  mucor fk506-resistant bainieri drug sanger serial

• A statistical change point model approach for the detection of DNA copy number variations in array CGH data.

  PMID 19875853 · PMC4154476 · IEEE/ACM transactions on computational biology and bioinformatics · 2009 · 7 claims · 4 setups

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  A novel mean and variance change point model (MVCM) is proposed to detect CNVs/breakpoints in aCGH data.

  simulated fibroblast breast simulation array

• Lower incidence of K-ras codon 12 mutation in flat colorectal adenomas than in polypoid adenomas.

  PMID 8144396 · PMC5919417 · Japanese journal of cancer research : Gann · 1994 · 5 claims · 3 setups

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  Flat colorectal adenomas have a significantly lower K-ras codon 12 mutation frequency than polypoid adenomas and cancers.

  flat polypoid colorectal k-ras

• Somatic mutations in RET exons 12 and 15 in sporadic medullary thyroid carcinomas: different spectrum of mutations in sporadic type from hereditary type.

  PMID 10622534 · PMC5926019 · Japanese journal of cancer research : Gann · 1999 · 8 claims · 3 setups

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  Novel somatic point mutations and an in-frame deletion were identified in RET exons 12 and 15 in sporadic MTC

  formalin-fixed corresponding sporadic pcr clinical

• Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.

  PMID 18523664 · PMC2408774 · Molecular vision · 2008 · 7 claims · 3 setups

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  Linkage analysis mapped the CN disease gene to Xp22.3, with the highest two-point LOD score at marker DXS7103

  genomic linkage haplotype pcr

• Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

  PMID 17033964 · PMC1698567 · American journal of human genetics · 2006 · 7 claims · 4 setups

  Has reproduction · 75

  Heterozygous de novo point mutations in HCCS (missense p.R217C and nonsense p.R197X) cause X-linked dominant MLS in females with normal karyotypes

  patients family saccharomyces cho-k1 mutation deletion yeast

• CIRCprimerXL: Convenient and High-Throughput PCR Primer Design for Circular RNA Quantification.

  PMID 36304334 · PMC9580850 · Frontiers in bioinformatics · 2022 · 8 claims · 5 setups

  Has reproduction · 88

  CIRCprimerXL is a high-throughput, user-friendly circRNA RT-qPCR primer design pipeline available as both a web tool and a standalone Nextflow/Docker pipeline

  synthetic sw480 circrnas rt-qpcr circrna primer

• Abnormalities of the p53 MDM2 and DCC genes in human leiomyosarcomas.

  PMID 8198970 · PMC1969417 · British journal of cancer · 1994 · 6 claims · 8 setups

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  A significant minority of leiomyosarcomas harbor p53 gene point mutations or deletions

  leiomyosarcomas frozen leiomyosarcoma sarcoma sscp direct immunohistochemistry

• Mutation of the nm23 gene, loss of heterozygosity at the nm23 locus and K-ras mutation in ovarian carcinoma: correlation with tumour progression and nm23 gene expression.

  PMID 7669582 · PMC2033876 · British journal of cancer · 1995 · 8 claims · 5 setups

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  A novel missense mutation (TGG→CGG, Trp133→Arg) in nm23-H2 was found in one stage III serous ovarian carcinoma

  ovarian case matched same pcr-sscp subcloning loh

• Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

  PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups

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  RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene

  peripheral patient-parent genomic crebbp karyotyping bac microsatellite

• Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

  PMID 17697348 · PMC2042502 · BMC genetics · 2007 · 8 claims · 5 setups

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  CTCE eliminates the need for laboratory optimization of separation conditions for each exonic target sequence.

  pcr-amplified target exonic cycling ctce

• Efficient algorithms for probing the RNA mutation landscape.

  PMID 18688270 · PMC2475669 · PLoS computational biology · 2008 · 8 claims · 4 setups

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  RNAmutants generalizes McCaskill's partition function algorithm to sum over the grand canonical ensemble of all secondary structures of all k-point mutants, simultaneously computing MFE(k) and Z(k) for each k

  element hepatitis hiv utr partition deleterious mutation

• Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

  PMID 18580586 · PMC2750842 · Alzheimer disease and associated disorders · 2008 · 8 claims · 8 setups

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  The PSEN1 N135S mutation causes EOFAD with an atypical phenotype including spastic dysarthria, limb spasticity, and seizures in addition to typical cognitive deficits

  archival medulla cortex hippocampus immunohistochemistry thioflavin-s pcr

• An efficient method for the prediction of deleterious multiple-point mutations in the secondary structure of RNAs using suboptimal folding solutions.

  PMID 18445289 · PMC2386494 · BMC bioinformatics · 2008 · 8 claims · 6 setups

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  Using RNAsubopt suboptimal solutions computed once for the wild-type sequence, specific multiple-point mutations likely to cause conformational rearrangement can be selected without brute-force enumeration.

  example hepatitis minimum suboptimal multiple-point

• Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy.

  PMID 19842929 · PMC2923222 · Pharmacogenomics · 2009 · 8 claims · 8 setups

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  Approximately 15-20% of nonsynonymous variants in membrane transporters exhibit reduced function

  abc hek293 expressing sophie computational transporter transport

• Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

  PMID 19795005 · PMC2752790 · Journal of Korean medical science · 2009 · 7 claims · 6 setups

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  The patient has a homozygous D103N point mutation in the MC2R gene, with both parents heterozygous carriers

  peripheral infant genomic serum rapid pcr

• Extraction of human kinase mutations from literature, databases and genotyping studies.

  PMID 19758464 · PMC2745582 · BMC bioinformatics · 2009 · 7 claims · 6 setups

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  A literature mining pipeline combining MutationFinder, false-positive filtering, and SVM-based classification can extract and disambiguate single-point mutation mentions from abstracts and full text

  pubmed large labeled swissprot literature supervised comparative

• IsoSCM: improved and alternative 3' UTR annotation using multiple change-point inference.

  PMID 25406361 · PMC4274634 · RNA (New York, N.Y.) · 2015 · 8 claims · 6 setups

  Has reproduction · 30

  Existing ab initio assemblers (Cufflinks, Scripture) annotate at most one 3' boundary per terminal exon and therefore cannot assemble coexpressed tandem 3' UTR isoforms.

  mapped simulated rna-seq ict1 computational benchmarking 3'-seq

• PDA: Pooled DNA analyzer.

  PMID 16643673 · PMC1539032 · BMC bioinformatics · 2006 · 8 claims · 4 setups

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  No software existed prior to PDA for complete pooled-DNA analysis including data standardization, allele frequency estimation, and single/multipoint association tests

  heterozygous pools ordered peak pooled single-point