Geneticist Assistant enhances copy number variant analysis results by maintaining a database of detected copy number variants. For each CNV event Geneticist Assistant reports the total number of samples that have been imported with the variant, as well as the frequency at which the variant occurs both relative to the panel and for all samples for which CNV data has been imported. After reviewing a copy number variant, a classification can be assigned and displayed for future occurrences, improving efficiency by reducing the amount of review time required for later samples.
Geneticist Assistant can import copy number variant calls using GVF format files. The copy number variant data can be linked to a sample and/or patient that can also include SNP/indel variants from a VCF file.
Copy Number Variation Data: The copy number call, annotation, statistics and a user-set classification are displayed.