Next-generation sequencing technologies are making advancements in personalized medicine a reality – thanks to fast, accurate, and historically low-cost sequencing methods. But when a typical exome analysis identifies upwards of 10,000 sequence variants and a typical whole genome analysis identifies upwards of 3 million variants, the challenge becomes how to weed through the overwhelming background noise to identify those few variants that are relevant to the pathology of the patient.

Many service providers offer genome analysis services, but only BIOBASE combines key public domain data annotation sources such as COSMIC and ClinVar with sequence features extracted from BIOBASE’s proprietary HGMD®, TRANSFAC® and PROTEOME databases in order to provide the most comprehensive and accurate analysis possible.