Each pathogenic criterion is weighted as very strong (PVS1), strong (PS1 4); moderate (PM1 6), or supporting (PP1 5) and each benign criterion is weighted as stand-alone (BA1), strong (BS1 4) or supporting (BP1 6).
With stringent criteria, pathogenic SNVs and InDels were identified and patients with no pathogenic variants were further analysed for copy number variations (CNVs).
In families that meet the stringent Amsterdam criteria, pathogenic MSH2 or MLH1 mutations have been detected in about 50% of kindreds (Wijnen et al, 1997).
This information will allow for the development of genetic and genomic criteria for pathogenic strains, including development of assays that specifically detect pathogenic Listeria strains.
This information will be critical for the development of genetic and genomic criteria for pathogenic strains, including development of assays that specifically target pathogenic Listeria strains regardless of species classification.
It is crucial to understand the evolution of genes expressing virulence factors, which may also help in the development of genetic and genomic criteria for pathogenic strains, including the development of assays for the detection of pathogenic Listeria strains [ 13, 25].
To define variants as "expected pathogenic" we used the criteria previously described.
For samples recruited through kConFaB, AJBCS and ABCFS, mutations were classified as pathogenic according to the criteria established by kConfab.
After reviewing the literature for supporting evidence to justify designating these 250 variants as pathogenic, 3 variants met criteria as "expected pathogenic" and 11 as "known pathogenic" (Table 3 and Figure 1c).
On the other hand, our estimate was based on the annotations provided in ClinVar, which established more conservative and transparent inclusion criteria for pathogenic variants.
