Examples of factors to be taken into consideration when calculating a variant’s “weight”. An overall score is automatically calculated by I-MPOSE for each variant identified with ES/WGS by simultaneously taking into consideration different factors. Some examples of such factors are listed above in Figure. 2. Information about the pattern of inheritance can also be factored in the weight assignment process (Figure.2b). The overall score corresponds to the level of certainty for the pathogenicity of each genetic variant identified. An option to allow for adjusting the default parameters is possible through an interactive checklist. The physician can opt to assign a different contribution for a specific parameter (e.g. a much increased contribution for homozygosity when dealing with consanguinity) in the calculation of the variant’s overall score.
Trakadis BMC Medical Genomics 2012 5:31 doi:10.1186/1755-8794-5-31