Consolidated reference datasets
Comprehensive and flexible annotation with over 50 public reference databases (e.g. ClinVar, OMIM, gnomAD, etc)
Clinical Sequence Analyzer (CSA) allows users to quickly identify clinically-relevant phenotype-associated genes and variants from individual patients to complex families. Our novel data structure is engineered for both clinical diagnosis and research projects, and can scale with the massive data volumes from whole genome and whole exome sequence data.
Comprehensive and flexible annotation with over 50 public reference databases (e.g. ClinVar, OMIM, gnomAD, etc)
Singleton, complex, and multiple family analysis for rare or extreme phenotypes.
Highlights candidate genes with ranking, provides immediate visualization of raw sequence reads, and enables easy access to the UCSC genome browser for comparison.Proprietary tools for variant curation, supporting the integration of an internal knowledge base.
Flexible ACMG guidelines scoring tool integrated with streamlined clinical reporting.
