Feature
Whole exome sequencing (WES) employs next-generation sequencing technology (NGS), which provides a cost-efficient alternative to WGS. The human whole exome, composed by about 180,000 exons (protein-coding region of the genome) accounts for only 1-2% of the human genome, but up to 85% of the disease-related mutations associated with Mendelian disorders occur in these regions . By targeting these regions, human whole exome sequencing (hWES) provides an in-depth sequencing and analysis approach to indicate genome variants, germline mutations, somatic mutations, and pathogenic mechanisms. hWES service supports a broad range of studies for researchers, including genetic disease-related variants, complex diseases, cancer research, or human population genetics.
Spec : Sequencing and Data
Genomic DNA Amount： ≧ 500 ng (Qubit)
- Concentration： ≧ 25 ng/μl
- Volume：≧ 20μl
- OD260/280 ≧ 1.8 (NanoDrop)
- no degradation, no
contamination
Sequencing Spec
- Model and Mode： Novaseq 6000 / X Plus, PE 150
- Library kits：Agilent, IDT or Roche/KAPA
- Output Data： 6G, IDT or 8G, Roche/KAPA
Data and bioinformatics
- Data Delivery：fastq or Data quality control /Alignment to a reference genome/ SNP and InDel calling