A service provider for the whole exome data analysis, CD Genomics uses bioinformatics to deeply mine the genetic information in the coding region 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.
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 has been 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 and economical.
Fig 1.Strategies for finding disease-causing rare variants using exome sequencing. (Bamshad MJ; et al. 2011)
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 but is not limited to the following research.
Fig 2. Application direction of whole exome sequencing analysis.
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
◎ Mendelian disorder analysis Mendelian disorder analysis
◎ NGS-GWAS analysis based on next-generation sequencing technology
◎ Exon fusion analysis
◎ Gene fusion
In addition, we can tailor the content of whole exome data analysis according to your specific project needs.
◎ 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.
CD Genomics is a professional bioinformatics service provider with years of experience in NGS and long read sequencing (PacBio SMRT and Oxford Nanopore platforms) data analysis, integrated analysis services, database construction and other bioinformatics solutions.
CD Genomics 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.