Human Germline Whole Exome Sequencing (WES)

Sample: EDTA Blood isolated by Chemagic DNA Blood 400 Kit (Revvity) or ≥20 μl, ≥25 ng/μl High quality DNA

 

Library preparation: xGen DNA Lib Prep EZ & xGen Exome Hyb Panel v2 Kit with UDIs (IDT)

 

Inclusions: WES analysis includes sample quality control, library preparation, final QC

 

Sequencing metrics: Performed on Illumina NovaSeq with 2x150 bp paired-end run; Seq throughput: 4,5/9/18 Gbp per sample; Q30 ≥ 85%, Target Coverage: 50x/100x/200x

 

Basic Bioinformatics: demultiplexing, filtering, trimming

 

Raw Data Export: free data transfer of raw FastQ files

 

Quality control: Full quality assurance and guaranteed specifications

 

Turnaround time: 4-5 weeks