Targeted sequencing refers to a method of examining the genome through looking only a small sample of the - often a gene or small number of genes – instead of an individual's entire genome. It is more cost-effective than examining an entire genome and aids in deeper analysis of results from Whole Genome Sequencing（WGS） and other survey methods.
Taking advantage of next-generation sequencing (NGS) technology, it precisely and efficiently allows targeting of specific genes, coding regions, even segments of chromosomes directly relevant. Targeted sequencing has brought a great leap forward in the field of disease diagnosis. It is a powerful tool to investigate a lot of disease areas, such as oncology, inherited diseases, immunology, infectious diseases, and so on. As we all know, DNA sequence changes can cause errors in proteins as well as severe medical conditions. Hereditary diseases were led by mutations originating in germ cells and representing in all cells of an individual. Determining the underlying DNA changes make it possible to diagnose hereditary diseases, estimate the prognosis, and choose adequate preventive treatments. In a time frame that facilitates clinical actions, next-generation sequencing can make comprehensive analysis of thousands of clinically relevant target genes . DNA sequencing discoveries different types of mutations by exchanging single nucleotides (point mutations) or adding or removing nucleotides (insertions and deletions). Targeted sequencing gives us opportunity to identify all mutations which have been previously connect to specific genetic disorders as well as novel variants in the disease-associated genes.
In the year of 2003, the human genome project completed. Since then, genome sequencing technologies has been made extraordinary progress, which has caused a decreased cost per megabase and an increase in the number and diversity of sequenced genomes. What’s more, an astonishing complexity of genome architecture has been revealed, which brings these sequencing technologies to even greater advancements. Some methods maximize the number of bases sequenced in the least amount of time and generate amount of data being used to understand increasingly complex phenotypes. While other approaches now aim to sequence longer contiguous pieces of DNA, which are essential for resolving structurally complex regions. These strategies are providing researchers and clinicians a variety of tools to probe genomes in greater depth. It leads to an enhanced understanding of how genome sequence variants underlie phenotype and disease.
CD Genomics is a one of the world leading Genomics Services Companies which innovates sequencing services, genotyping, microarray, library construction, bioinformatics, aptamers, health diagnostics, mutagenesis analyses and others for the genomics industry. If you have any questions, please contact with us.