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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



•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)

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