Manual filtering

In case no conclusive diagnosis can be reached based on the results of Moon’s automated filter pipeline, manual filtering of the rare variants in the VCF is required.

As such, negative results from the automated pipeline can be manually confirmed. In addition, variants that are not included in the scope of the automated filter pipeline (eg. genes that have not yet been linked to disease; known genes linked to new disease phenotypes), or that were missed by the automated pipeline can be manually identified and added to the list of results.

Additionally, it is possible to manually analyse samples in Moon without specifying an input phenotype (eg. if phenotype info is not available, or if the analysis is rather preventative). In this case, no automated analysis is possible and manual filtering of the data will be required.

Manual filtering is performed in the Filter view, which can be accessed via the Filter tab on top of the screen.