Last modified: July 21, 2022

EVIDENCE is 3billion's state-of-the-art variant interpretation and prioritization system developed in-house that is composed of 3 key components:

Daily updated database

Updating and synthesizing various databases such as ClinVar, OMIM, ORPHANET, ENSEMBL, NCBI and HGNC daily in an automated manner is extremely important, especially when a plethora of new information on variants and genes are being released everyday from multiple laboratories.

Specifically modified variant classification system

The 2015 ACMG/AMP guideline is commonly adopted for variant interpretation. However, it is known to result in inconsistent application due to condensed/vague descriptions of each criteria. EVIDENCE defined each criteria more specifically based on extensive experience of multiple highly proficient interpreters on over 10,000 cases.

Phenotype similarity scoring system

Ultimately, the variant interpretation is based on how well the patient's phenotype matches the phenotype of a gene of interest. EVIDENCE uses a symptom similarity scoring system that compares the patient's phenotype transformed to standardized HPO (Human Phenotype Ontology) terms to the symptoms known to be associated with each gene.

For more information on how EVIDENCE helps patients end their diagnostic odyssey, please refer to our white paper.