Our Bioinformatics service tailored for Mendelian Diagnostics
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 finding 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 which are predicted to disrupt the protein function.
Please enter the sample clinical info, either as text or as HPO terms.