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.

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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!