Fri, 11/14/2025 - 09:00
Key Changes
- Ancestry analysis has been added.
- A new report block titled “Interpretation of Genotypes in the SNP Panel” has been introduced. It enables genotyping and annotating selected polymorphisms from the dbSNP database.
- New polygenic trait prediction models have been added.
- The ClinVar database has been updated to the July 2025 release.
Useful Additions
- The ability to edit the interpretation of sections and genetic variants directly within the report.
- The ability to generate a report based on genetic variants that meet multiple combined filtering conditions. It makes easier setup of automated criteria for Preconception screening and other like reports.
- The TwistExome 2.0 exome panel (Twist Bioscience, USA) has been added.
- The Agilent SureSelect Human All Exon V8 reagent has been added.
- The variant genotype is now displayed in both allele and nucleotide notation.
- Exon entries now indicate the total number of exons in the transcript.
Improvements
- The genetic variants table in the report has been standardized.
- The loading speed of the SNV Viewer module has been optimized.
