Patent ID: 11869630
Assignee: CONGENICA LTD.
Field: Computer technology (Electrical engineering)
Classification: CPC G | IPC G

Claim 2:
3. The screening system according to claim 1, wherein the data processing arrangement is further configured to employ at least one of the following scores when computing the modification in the data processing arrangement:
a genome locality score, wherein the genome locality score includes a likelihood of a mutation within a region;
a sequence error score, wherein the sequence error score includes a likelihood of a given nucleic acid base being a result of PCR infidelity during template amplification and/or a miscall during a sequencing process;
a patient modifier score, wherein the patient modifier score includes information from external sources; and
a mosaicism detection score, wherein the mosaicism detection score includes a likelihood of variants occurring in a region of imbalanced maternal genotype.