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Each small block square indicates one unique mutation sample for LATS1/2 from human cancer.
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Of the 213 individuals who could be inferred to have a p53 mutation, samples were available for 132 individuals, but MDM4 genotypes were missing for two of these individuals.
All mutations in samples for which there was sufficient DNA remaining were validated by High Resolution Melt (HRM) [ 27] analysis, iPLEX (using newly designed PCR and extension primers that differed from the OncoCarta primers), repeat OncoCarta analysis, and/or direct sequencing if the Mutant Allele Proportion (MAP) was >30% (Table 1 and Additional file 2, Table S2).
It was not possible to examine psychological impact separately for the small number of high risk women who could not be offered testing due to the absence of an affected relative available to give a blood sample for mutation searching.
We also tested the melanocytosis sample for mutations in codon 600 of BRAF and for oncogenic mutations in codon 209 of the GNAQ and GNA11 genes, as the latter are present in adult cases of primary leptomeningeal melanocytic neoplasms [ 8, 9].
The paraffin-embedded (FFPE) tissue sample is widely used as a sample for RAS mutation testing.
This resulted in a list of 296 candidate genes sorted based on the number of samples having mutations in the given gene and the number of mutations pertaining to a single sample for that gene.
We assumed six different statistical models that varied in the adjustments made for mutation and sample size.
It is also unclear the best way to account for mutation and sample size when this method is implemented.
The results were correct for 47/48, and false for one case (no mutation for a sample with a p.V600K mutation).
Shows the 162 unique samples used for analysis in this report, the laboratory from which they were sourced, the primary tumour type, the tissue of origin, any somatic mutation the sample was pre-validated for and the technology used for that pre-validation.
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