● Two exome panels available based on target enrichment with probes: Sure Select Human All Exon v6 (Agilent) and xGen Exome Hybridization Panel v2 (IDT).
● Sequencing on Illumina NovaSeq.
● Bioinformatic pipeline directed towards disease analysis or tumor analysis.
For Mendelian disorders/rare diseases: effective sequencing depth above 50×
For tumor samples: effective sequencing depth above 100×
Bioinformatic analysis of tumor samples includes:
● Sequencing data QC
● Reference Genome Alignment
● Identification of SNPs, InDels and somatic variations
● Identification of germline variants
● Mutation signatures analysis
● Identification of drive genes based on gain-of-function mutations
● Mutation annotation at the level of drug susceptibility
● Heterogeneity analysis – calculation of purity and ploidy