Genomic testing, on the other hand, looks for variations within large segments across the entirety of genetic material, both within and outside known functional genes. Investigators don’t usually need to have a target gene in mind or any prior knowledge of the underlying biology of a trait when doing genomic testing. However, genomic testing produces large amounts of data that must be processed to tease out genetic variants of significance to a particular trait.
Whole Exome Sequencing
Exome (the protein-coding region of the human genome) represents less than 2% of the genetic code, but contains ~85% of known disease-related variants, making whole-exome sequencing a cost-effective alternative to whole-genome sequencing. Whole Exome Sequencing test is a highly complex test that is developed for the identification of changes in a patient’s DNA that are causative or related to their medical concerns. In contrast to current sequencing tests that analyze one gene or small groups of related genes at a time, the Whole Exome Sequencing test will analyze the exons or coding regions of thousands of genes simultaneously using next-generation sequencing techniques.
Whole Genome Sequencing
Human whole genome has approximately 3 billion base pairs of nucleotides. The first human whole genome sequencing (hWGS) was completed and published in 2001. Since then, hWGS is widely studied in the filed of biomedical science, anthropology, forensics and many more. Individual variations, such as single nucleotide polymorphism (SNP), copy number variation (CNV) and structural variations (SV), can be identified by whole genome re-sequencing.