Better disease association
“Clinical Exome (Ver.4)” Panel is enriched for disease associated genes (with strong
evidence) and genes with limited but emerging evidence from OMIM, Orphanet and other
Focused Design for Deeper Coverage Of Disease Variants:
Approximately 184,076 + 70,268 coding variants and 2123 + 12693 noncoding variants from HGMD
and ClinVar respectively are covered with a minimum of 10x coverage.
How does MedGenome Clinical Exome (Ver. 4) compare with
Clinical Exome (Ver. 4) shows better coverage of the disease annotation sources compared to other
exomes, increasing the likelihood of identifying the disease-causing variant. Percent coverage of databases
(intersect of baited regions with the databases) is shown in the table below.
Coverage across selected annotation sources (Percentage of databases targeted)