Join this webinar to learn how to annotate, filter and enrich your genomic variant data using MetaCore, a Cortellis solution. You’ll discover how MetaCore’s Genomic Analysis tool allows you to understand the processes behind your gene variants and build a network to hypothesize the mechanism of action between them.
To illustrate this capability, we will analyze the genotype and phenotype of a patient suffering from Charcot-Marie-Tooth disease (CMT), which is one of the most common causes of peripheral neuropathy affecting at least 1 in every 2,500 people. This patient inherited missense mutations in RAB7A and LRSAM1 genes, both reported to cause different subtypes of CMT, and the interaction of which (shown below) seems to modify the disease phenotype.
During this on-line session you will learn how to: