• Whole exome sequencing is performed using Agilent SureSelect enrichment followed by sequencing on the Illumina Novaseq6000 platform to an average depth of coverage of at least 100X
  • Whole genome sequencing is performed using TruSeq PCR-free library preparation followed by sequencing on the Illumina Novaseq6000 platform to an average depth of coverage of at least 30X
  • Sequence reads are aligned to genome build GR38 and small sequence variant (single nucleotide variants, insertions, and deletions) analysis is performed with the Dragen Germline analysis platform.
  • Copy number variant (CNV), structural variant (SV), and absence of heterozygosity (AOH) analysis is performed using Dragen.
  • At this time, mitochondrial DNA variants are not assessed.
  • Individual quality metrics available upon request.