• Whole exome sequencing is performed using Agilent Sureselect enrichment followed by sequencing on the Illumina Novaseq6000 platform to an average depth of coverage of ~140X
  • 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 ~40X
  • Sequence reads are aligned to genome build GR37 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 with Dragen.
  • Individual quality metrics available upon request.