Exons are DNA regions directly involved in protein coding. There are about 180000 exons in the human genome, which are about 30Mb in length. It is reported that most of the pathogenic mutations of monogenic diseases are concentrated in the exon region. whole exome sequencing (WES) is a high-throughput gene sequencing method which uses sequence capture technology to capture exon regions and non-transcriptional regions with important regulatory functions and enrich them for high-throughput gene sequencing. By analyzing the whole exon sequencing data by bioinformatics method, the disease-related mutation sites can be found more accurately, which is economical and cost-effective.
Applications
Whole exome sequencing data has been successfully applied in the study of Mendelian diseases such as Miller syndrome, Kabuki syndrome, severe craniocerebral malformation and so on. Some other cancers and complex diseases have also observed highly related mutations by exon sequencing. Totally, whole exome sequencing analysis can be used for the following research, but it is not limited to the following research.
Application direction of whole exome sequencing analysis.
Turnaround Time
Depending on the number of samples and the quality and size of the sample data.
Objectifs
we use bioinformatics to deeply mine the genetic information in the coding regionwe based on the whole exome sequencing data. Our unique skills in data analysis can meet customers' personalized data analysis needs and provide you with comprehensive data analysis results.
Standard Analysis Content
Data quality control, remove joint contamination and low quality data;
Align to reference genome sequence, statistical sequencing depth and coverage;
Somatic SNP / InDel / SV / CNV detection, annotation and statistics (more than two pairs of samples)
Advanced Analysis Content
Predictive analysis of amino acid substitution
Population SNP acquisition and allele frequency assessment
NGS-GWAS analysis based on next-generation sequencing technology
Exon fusion analysis
Gene fusion
Importante Note
Advantages of Whole Exome Data Analysis
Directly analyze the protein coding sequence to find out the mutations that affect the protein structure
High-depth sequencing data can find common mutations, low frequency mutations and rare mutations.
BBL provides general analysis and customized analysis of whole exome sequencing data analysis. Experienced teams of scientists, researchers, and technicians, we provide fast turnaround, high-quality data reports at competitive prices for worldwide customers. Customers can contact our employees directly and we will respond promptly. If you are interested in our services, please contact us for more detailed information.
