Comprehensive variant calling and interpretation with TruSight Software Suite can help you find critical answers quickly.View Video
The Medical Genome Initiative consortium aims to expand access to high-quality clinical whole-genome sequencing for rare genetic diseases.Read Article
Learn how TruSight Software Suite offers an intuitive and comprehensive rare disease analysis and interpretation solution.Read Data Sheet
Variant analysis in TruSight Software Suite begins with automatic alignment and variant calling using the DRAGEN Platform, followed by triaging, visualizing, and interpreting variants.
Family-based variant filtering enables identification of inherited and de novo variants. The variant grid, which is customizable by each user, shows information on category of variant, chromosomal position, gene affected, overlap (number of overlapped phenotypes for the variant), consequence of the variant, population frequency of the variant (if known), and more.
The CaseLog feature in TruSight Software Suite enables visualization of aggregate data for both variants and genes of interest.
TruSight Software Suite offers a template for customization of reports of gene and variant associations relevant to the case.