Clinical Sequence Analyzer

Identification of Disease-causative Variants for Clinical and Research Use

Rapidly identify clinically-relevant phenotype-associated genes and variants.

Clinical Sequence Analyzer

Quickly 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.

Data type flexibility

NGS data upload from gene panels to genomes incl. FASTQ, BAM, VCF.

Consolidated public resources

Comprehensive and flexible annotation with over 50 public reference databases (e.g. ClinVar, OMIM, gnomAD, etc)

Variant Curation

Proprietary tools for variant curation, supporting the integration of an internal knowledge base.

Simple or complex family analysis

Singleton, complex, and multiple family analysis for rare or extreme phenotypes.

Gene candidate ranking

Highlights gene candidates with ranking, provides immediate visualization of raw sequence reads, and enables easy access to the UCSC genome browser for comparison.

ACMG Guidelines

Flexible ACMG guidelines scoring tool integrated with streamlined clinical reporting

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