DNA Extraction (if applicable)
Initial DNA QC
Library Preparation
Sequencing
Alignment and variant calling
Data Delivery
Library Preparation Kit: Illumina DNA Prep with Enrichment
(Twist Bioscience for Illumina Exome 2.5 Panel)
Sequencing Platform: Illumina NovaSeq 6000
Read Type: Paired-end
Read Length: 2x150 bp (300 cycle)
Sequencing Depth: Total mean coverage of ~100X
Initial DNA QC Report (.pdf)
Raw data file (.fastq) (available upon request)
Alignment file (.cram) (BAM file available upon request)
Variant file (.vcf)
Sequencing QC Metrics Report (.pdf)
2-3 weeks for a batch of up to 96 samples
For detailed information about the sample requirements for our Whole Exome Sequencing service, please consult our sample requirements page.