Whole exome sequencing (WES) uses sequence capture technology to enrich exon DNA, offering a cost-effective alternative to whole-genome sequencing. It provides deeper coverage and higher data accuracy, ideal for identifying disease-related genetic variants, supporting targeted therapies, and advancing genetic research.

Work flow

Technical Parameters

Sequencing range	Whole exome region
Sequencing strategy	NGS PE150
Sequencing throughput	100x (10Gb)/200x(20Gb)
Capture probes	Agilent v6, Roche v3,IDT v2 and more
Specie	Human and mouse
Data quality	Fastq files, Q30≥85%
Data analysis	Standard+advanced analysis
TAT	Standard: 25 WD

Applications

Disease Gene Discovery	Pharmacogenomics	Diagnostic Testing
Cancer Research	Complex Trait Analysis	Preventive Medicine and Health Screening

Bioinformatics Analysis

1.Process the raw data to remove adapter sequences, contaminants, and low-quality reads.
2.Perform alignment against a reference sequence and analyze sequencing metrics, including depth and coverage statistics.
3.Identify genetic variants using the alignment results. This includes the detection of Single Nucleotide Variants (SNVs), Insertions and Deletions (INDELs), and Copy Number Variations (CNVs).
4.Utilize ANNOVAR software to annotate identified variant sites, providing insights into their potential effects on biological functions.
5.Employ PLINK software to assess and confirm kinship relationships within the sample set.
6.Based on the annotation data, identify potentially deleterious germline Single Nucleotide Polymorphisms (SNPs) and INDELs. 7.Analyze the pathogenicity of CNVs using data from the Database of Genomic Variants (DGV) and the Copy Number Variation in Disease (CNVD) database.
8.Screen for common mutations in sporadic samples and assess dominant, recessive, and compound heterozygous mutations in familial samples based on their genetic profiles.
9.Perform functional enrichment analysis of candidate genes using Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) databases.

Advantages

Higher depth
Various brands of probes are available
100ng minimum DNA input
Advanced analysis & customized analysis provided