Whole-genome sequencing encompasses sequencing an entire genome and is useful for uncovering the genetic underpinnings of diseases. In contrast, targeted gene sequencing, like whole-exome sequencing, focuses on specific regions and can be more cost-effective. Both approaches have broad applications across various industrial and medical fields, contributing to the advancement of personalized medicine.
Whole Genome vs. Targeted Gene Sequencing
Whole-genome sequencing (WGS) is a comprehensive method that involves determining the complete DNA sequence of an organism's genome at a single time. This approach is particularly useful in pinpointing the genetic basis of diseases. A notable example of its life-saving potential was the use of whole-exome sequencing in 2010, to diagnose and cure a young boy with mysterious intestinal abscesses. There are several laboratories that now provide services to sequence, analyze, and interpret entire genomes, a process that may pave the way for personalized medicine.
On the other hand, targeted gene sequencing and specialist analysis focus on specific areas of the genome, such as exons, which are the coding regions of genes that translate into proteins. This method was applied to perform whole-exome sequencing on the young boy, successfully revealing a defect in the apoptosis pathway and leading to a curative bone-marrow transplant. Targeted sequencing can be a cost-effective alternative when only specific genetic regions are of interest.
The progress in genomic sequencing technologies has many applications beyond medical treatments, including biofuel development, agriculture, pharmaceuticals, and pollution control.