Variant Prioritization for Clinical and Research Use
Rapidly identify clinically-relevant phenotype-associated genes and variants.
Identify and curate variants to enable personalized patient care
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.
Consolidated reference datasets
Comprehensive and flexible annotation with over 50 public reference databases (e.g. ClinVar, OMIM, gnomAD, etc)
Simple or complex family analysis
Singleton, complex, and multiple family analysis for rare or extreme phenotypes.
Gene candidate ranking
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.
ACMG Guidelines
Flexible ACMG guidelines scoring tool integrated with streamlined clinical reporting.
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