The automated Moon pipeline generates its results by sequentially filtering and then ranking variants, both SNVs and SV/CNVs. An automated analysis is performed for each sample for which at least one HPO term is provided as input. The results of the automated pipeline are presented in the Shortlist.
The automated filter pipeline is phenotype-driven for both filtering and ranking. Phenotype overlap with known genetic disorders is scored based on the Apollo database, Moon’s underlying disorder model.
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Genes and disorders outside the scope of Apollo should be assessed using the Filter view but will not be outputted by the automated pipeline.
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The output of Moon’s automated filter pipeline can consist of a single candidate variant, a ranked list of candidate variants, or a negative result with no suggested candidate variants. In the latter case, some recommendations are presented to the user including:
Manual filtering of the data in the Filter View
Enabling the Autopilot for automated sample Reanalysis
Verifying VCF Quality to ensure that reliable interpretation has been possible
Expanding or refining HPO input
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A conclusive diagnosis of a rare genetic disease can only be reached by a trained professional in human genetics after critical review of the outputted results, in combination with review of results from additional tests deemed necessary by the human genetics professional based on the Moon output (eg. additional clinical evaluation, biochemical tests, segregation testing...). |
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