Apostle MiniEnrich Exome Core Panel

Whole-exome sequencing is a widely used next-generation sequencing (NGS) method. The human exome represents less than 2% of the genome, but contains ~85% of known disease-related variants. Not only that, the exome is distributed throughout the genome, and it also covers tens of thousands of high-frequency SNP sites and nearly 20,000 microsatellite sites. Therefore, whole exome sequencing (WES) is not only used in genetic disease screening, tumor mutation burden and other sequence variation analysis, but also used in copy number variation, homologous recombination repair deficiency detection and other structural variation analysis and microsatellite instability analysis, etc.

Therefore, based on the latest version of Refseq (109, 2021) and the CCDS database combined with individual requirements, Apostle has independently developed a core version of the all-exome gene detection panel: Apostle MiniEnrich Exome Core Panel.

Based on the Refseq (109, 2021) and the CCDS database, Apostle MiniEnrich Exome Core Panel has carefully selected some regions that are worthy of attention outside the database. At the same time, based on product continuity considerations, some regions deleted in the latest version of the database have been retained. The Apostle MiniEnrich Exome Core Panel contains approximately 400,000 single-stranded DNA probes by independently synthesized and independently inspected for quality, targeting a 34.7Mb genomic region (19,613 genes). Apostle MiniEnrich Exome Core Panel, as a core all- exome Panel which can be combined with different spike-in panels to meet different application requirements.