The design and annotation files provide information about genomic regions covered by the capture probes and the genes included in these regions.
The SeqCap EZ MedExome Probes was designed to cover exons from from the following annotation sources:CCDS 17, RefSeq CDS August 2014, Ensembl 76 CDS (biotype filtered), VEGA 56 CDS, GENCODE 20 CDS and miRBase 21. The design also includes coverage for regions defined as medically relevant, including GeneTests CDS (excluding mitochondrial genes), ClinVar, coding sequence from the set of ~4600 genes identified by the consortium of the Emory Genetics Lab, Harvard Laboratory of Molecular Medicine, and Children's Hospital of Philadelphia (CHOP) and additional regions deemed as medically relevant based on customer input. The genome assembly coordinates are based on the UCSC human genome build hg38, though hg19 files are also provided.
The total design size is 47Mb of capture target space; the capture targets BED file shows the capture probe footprint. The UCSC Browser BED files are provided for upload as a custom track. All design files are provided in the original hg38 genome assembly and also converted to hg19 genome assembly. Conversion was performed using the NCBI Genome Remapping Service.
Download Design Files for the SeqCap EZ MedExome Probes
Download Design Files for the SeqCap EZ MedExome Probes used with mitochondrial genome design.