5 Matching Annotations
  1. Mar 2021
    1. We then applied the p53 functional assay on blood samples sent to our laboratory for TP53 molecular analysis (NGS screening of the 11 exons complemented by QMPSF). Molecular and functional analyses were performed in parallel, in double blind conditions.

      AssayGeneralClass: BAOCL:20:0010044 targeted transcriptional assay

      AssayMaterialUsed: CL:2000001 peripheral blood mononuclear cell from patients

      AssayDescription: Comparative transcriptomic analysis using reverse transcription to compare peripheral blood mononuclear cells of patients with wild type or pathogenic TP53 variants in the context of genotoxic stress induced by doxorubicin treatment. Ten biomarkers corresponding to p53 targets were measured to determine a functionality score.

      AdditionalDocument: PMID: 23172776

      AssayReadOutDescription: In the treated condition, the peak height of each of the 10 p53 target genes was measured and divided by the sum of the heights of the three control genes. This value was then divided by the same ratio calculated in the untreated condition. In the assay, the mean of the 10 values defines the p53 functionality score. The final p53 functionality score is the mean of the scores obtained in RT-MLPA and RT-QMPSF assays.

      AssayRange: An arbitrary functionality score was calculated from the induction score of the 10 p53 targets.

      AssayNormalRange: >7.5

      AssayAbnormalRange: <5.5

      AssayIndeterminateRange: Between 5.5 and 7.5 is associated with an intermediate effect.

      AssayNormalControl: wild type TP53

      AssayAbnormalControl: LFS patient cells

      ValidationControlPathogenic: 8 individuals had seven distinct TP53 variants which could be considered as likely pathogenic or pathogenic based on their ClinVar classification or their truncating nature.

      ValidationControlBenign: 51 individuals had no detectable germline TP53 variant

      Replication: at least two wells were seeded per patient (treated and untreated) and duplicates or triplicates were performed whenever possible.

      StatisticalAnalysisDescription: Differentially expressed genes between doxorubicin-treated and untreated cells were arbitrarily defined using, as filters, a P<0.01 and fold-change cutoffs >2 or <2, for up and down regulation, respectively. The resultant signal information was analyzed using one-way analysis of variance (ANOVA, P= 0.001), assuming normality but not equal variances with a Benjamani–Hochberg correction for multiple comparisons using three groups: controls, null, and missense mutations.

      SignificanceThreshold: P=0.001

      Comment: statistical analysis and P value from previous publication.

    2. We then applied the p53 functional assay on blood samples sent to our laboratory for TP53 molecular analysis (NGS screening of the 11 exons complemented by QMPSF). Molecular and functional analyses were performed in parallel, in double blind conditions.

      AssayGeneralClass: BAOCL:20:0010044 targeted transcriptional assay

      AssayMaterialUsed: CL:2000001 peripheral blood mononuclear cell from patients

      AssayDescription: Comparative transcriptomic analysis using reverse transcription to compare peripheral blood mononuclear cells of patients with wild type or pathogenic TP53 variants in the context of genotoxic stress induced by doxorubicin treatment. p53 RNA levels were evaluated and expressed as a percentage of the mean levels obtained for the three wild-type TP53 individuals.

      AdditionalDocument: PMID: 23172776

      AssayReadOutDescription: The p53 mRNA levels were expressed as a ratio of the normal values obtained for 3 TP53 wild-type control individuals.

      AssayRange: UO:0000187 the p53 RNA levels were evaluated and expressed as a percentage of the mean levels obtained for three wild-type TP53 individuals.

      AssayNormalRange: >65%

      AssayAbnormalRange: <65%

      AssayIndeterminateRange: N/A

      AssayNormalControl: wild type TP53

      AssayAbnormalControl: LFS patient cells

      ValidationControlPathogenic: 8 individuals had seven distinct TP53 variants which could be considered as likely pathogenic or pathogenic based on their ClinVar classification or their truncating nature.

      ValidationControlBenign: 51 individuals had no detectable germline TP53 variant

      Replication: at least two wells were seeded per patient (treated and untreated) and duplicates or triplicates were performed whenever possible.

      StatisticalAnalysisDescription: Differentially expressed genes between doxorubicin-treated and untreated cells were arbitrarily defined using, as filters, a P<0.01 and fold-change cutoffs >2 or <2, for up and down regulation, respectively. The resultant signal information was analyzed using one-way analysis of variance (ANOVA, P= 0.001), assuming normality but not equal variances with a Benjamani–Hochberg correction for multiple comparisons using three groups: controls, null, and missense mutations.

      SignificanceThreshold: P=0.001

      Comment: statistical analysis and P value from previous publication.

  2. May 2019
    1. Although regular macros work on programs in the form of trees, a special type of macro, called a read macro, operates on the raw characters that make up your program.

      this make me wonder how is this different from pre-processors? if I'm working on text before compile, is being in the same language giving me any advantage

  3. Aug 2015