Sample QC, Agilent exome capture library preparation, and 150PE sequencing. The Package Option specifies Illumina or MGI and whether standard analysis is included. When Standard BI is selected, disease WES includes SNP, InDel and CNV analysis (CNV requires >8 client control samples); cancer WES includes germline SNV/InDel, somatic SNV/InDel and somatic CNV (paired tumor-normal samples required).
The selected Package Option governs. Only the entry matching its Darwin reference applies.
Vendor Description and Sample Requirement by Package Option:
Darwin references: AZ-MWES-ILL-AG-NA-10G, AZ-MWES-MGI-AG-NA-10G
Vendor Description: No BI
Sample Requirement: Total DNA ≥500 ng; DNA Concentration ≥10 ng/μl
Darwin references: AZ-MWES-ILL-AG-SA-10G, AZ-MWES-MGI-AG-SA-10G
Vendor Description: Basic BI Included: Standard Analysis
• Disease WES: Includes SNP, InDel, and CNV analysis (Note: CNV analysis requires >8 control samples provided by the client).
• Cancer WES: Includes detection of Germline SNV/InDel, Somatic SNV/InDel, and Somatic CNV (Requires tumor-normal paired samples).
Sample Requirement: Total DNA ≥500 ng; DNA Concentration ≥10 ng/μl