WHOLE EXOME SEQUENCING SERVICES
Introduction
Whole Exome Sequencing (WES) is aimed to sequence all the protein-coding regions or exons in a genome, collectively known as exome. There are approximately 180,000 exons which represent less than 2% of the human genome. As most of the disease-related variants are found in the exons, WES is thought to be an efficient way to understand the genetic cause of diseases or conditions. Exome sequencing provides a cost-effective alternative to whole genome sequencing, as it targets only the protein coding region of the human genome responsible for a majority of known disease-related variants. Molsys Scientific provide a very cost-effective, high quality WES service using variety of enrichment methods as follows:
•Agilent SureSelect Human All Exon Kit
•Illumina Nextera / TruSeq Exome Enrichment Kit
•ThermoFisher Ion AmpliSeq Exome RDY Kit
Applications
•Global view of gene activity
•Novel gene and splice variant discovery
•Chromosomal rearrangement analysis
•Whole mRNA transcript expression analysis
Data Analysis
Primary Analysis
•Variant Calling and Annotation
Secondary Analysis
•Copy Number Variation (CNV) analysis
•Cancer analysis
Population analysis
Genomic DNA
Amount ≥ 400 ng
OD 260/280 = 1.8 - 2.0
MDA product/Single Cell Amplified DNA
Amount ≥ 1 μg
OD 260/280 = 1.8 - 2.0
Genomic DNA from FFPE
Amount ≥ 0.8 μg
OD 260/280 = 1.8 - 2.0
Platform Type Illumina Novaseq 6000
Read Length - Paired-end 150 bp
Recommended Sequencing Depth
For tumor sample: effective sequencing depth above 100× (12G)
For Mendelian disorder/rare disease: effective sequencing depth above 50× (6G)
Standard Data Analysis
Data quality controlAlignment with reference genomeSNP and InDel detectionSomatic SNP/InDel/CNV detection (paired tumor samples)
