- 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) and structural variant (SV) analysis is performed using Dragen.
- At this time, mitochondrial DNA variants are not assessed.
- Individual quality metrics available upon request.
Test Methodologyjorge2024-12-30T16:57:29-05:00