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Pre-clinical options

Get the list of the first 50 variants prioritized by artificial intelligence based on the clinical info of the sample. Note: Artificial intelligence only, no human filtering.

Get a research report with the possible diagnosis based on sample clinical info. This step is mediated both by artificial intelligence and human filtering. Note: PRIO50 is NOT included in this option.

Scanning of the incidental/secondary findings according to the ACMG list (2016 update). Note: ACMG list genes only.

Get the list of all variants which determine the status of healthy carrier for recessive conditions (autosomal and X-linked): variants already deposited in ClinVar only.

Get the list of all variants which determine the status of healthy carrier for recessive conditions (autosomal and X-linked): variants previously unknown (not deposited in ClinVar yet) which are predicted to disrupt the protein function.

Please enter the sample clinical info, either as text or as HPO terms.
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