Hereditary Diseases

Genomic medicine enables the assessment of undiagnosed Mendelian conditions. The findings can be used to guide the development of preventative or therapeutic interventions. Sometimes, findings simply end the diagnostic odysee giving patients and family members an answer to the underlying causes of a disease or trait. While individually rare, Mendelian conditions impact millions of individuals and families. Over 8000 distinct disease traits are cataloged to date caused by rare single nucleotide variants (SNV), small insertion/deletion (indel) variants, and copy number variants (CNVs).

The Golden Helix Varseq Platform allows clinicians and researchers to understand the relationship between genes their associated observed clinical phenotypes. We support the categorization of Mendelian conditions observing autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), or mitochondrial patterns of inheritance.

Our platform supports the full range of testing paradigms typically used in the clinic: Gene Panels, Clinical Exomes and Whole Genomes. Our VSClinical product supports the application of the guidelines issued by the American College of Medical Genetics (ACMG) evaluating the pathogenicity of mutations.

VarSeq is an intuitive, integrated software solution for tertiary analysis. With VarSeq you can automate your workflows and analyze variants for gene panels, exomes, and whole genomes. Understanding genomic data has never been easier thanks to our software.

VarSeq helps clinical testing laboratories complete the time-critical and patient-centric workflows for gene testing and rare disease diagnosis.

Comprehensive Workflows: The VarSeq clinical stack supports all of the steps necessary to provide clinical genetic tests from the raw VCF variants to the signed out clinical report. VarSeq's flexibility allows you to customize workflows to the individual gene panel or exome test.
Supported Genetics Tests Include: Diagnostic testing used to identify the presence or absence of causal genetic variations for specific disease , predictive and pre-symptomatic genetics tests designed to identify hereditary gene changes that can increase the lifetime risk of developing diseases, and Newborn Screening used to test babies soon after birth to identify highly penetrant variants for certain diseases known to cause problems with health and development.
Rare Disease Diagnosis: VarSeq includes first-class support for the more complex workflows associated with discovering the causal variants of rare disease. This includes using related samples in trios and quad analysis, algorithms that detect inheritance patterns of variants, ranking of rare patheogenic variants by their relevance to the phenotype terms provided by differential diagnositics and the integration of the public and premium annotations sources.

Get in Contact

If you are interested in starting a discussion about how Golden Helix software can assist in your hereditary disease research, please fill out the form below, and we will send you the details!

Recommended Learning Materials

We have a variety of supplemental learning materials that are an excellent resource for anyone interested in the industry or our software solutions. Here are some of our recommended materials for you to check out related to VarSeq!