Over the past decade exome sequencing has become a very useful tool in genetic testing. While there are many other methods used for genetic testing, exome sequencing has many advantages over them. Much like any other method, exome sequencing has a few practical limitations. Though this type of sequencing is a fairly new method, more recent research has found it extremely beneficial in aiding with genetic disease diagnosis as well as cancer studies. Through the analysis of exome sequencing, including the advantages/disadvantages of other types of sequencing, the promising future that exome sequencing provides for molecular technology should be acknowledged.
What is Exome Sequencing?
To understand what an exome sequencing is, one must …show more content…
Whole genome sequencing (WGS) was used before exome sequencing. WGS does exactly as the name suggests, it sequences the whole genome includes the noncoding regions. Exome sequencing has many advantages over WGS. Exome sequencing is much cheaper than WGS, coming in at a total of about $500 (Perkel, 2013, p. 262). Since the exon is much smaller than the whole genome, results are obtained at a faster rate and higher resolution than WGS. Some scientists think that exome sequencing is more beneficial than WGS because we only know how to interpret the exon of the genome (Perkel, 2013, p. 262). Although WGS produces more data (including the noncoding regions) this alone does not outweigh the fact that it is more expensive and provides results at a slower rate than exome …show more content…
One of the first examples of this occurred when a research group from Medical College of Wisconsin used exome sequencing to diagnose and treat a severe case of inflammatory bowel disease (IBD) in a young boy (Perkel, 2013, p. 263-264). Through exome sequencing, the researchers were able to discover a "single point mutation in the X-linked inhibitor of apoptosis (XIAP) gene" (Perkel, 2013, p. 264). After the discover of the mutated gene, the young boy was then treated with a cord blood transplant. This is not the only instance where exome sequencing was used to aid in diagnosis. There have been other instances where exome sequencing was used to diagnose genetic disorders. One instance occurred in a patient who was thought to have Bartter syndrome (a "renal salt-wasting disease"). This patient was proved to have a "homozygous missense D652N mutation in SLC26A3"(Ku, 2012, p. 9). This finding was significant, according to Ku (2012), because this gene is the known congenital chloride-losing diarrhea locus. After a follow up with the child 's pediatrician the diagnosis was confirmed, with the help of exome sequencing (Ku, 2012, p.
What is Exome Sequencing?
To understand what an exome sequencing is, one must …show more content…
Whole genome sequencing (WGS) was used before exome sequencing. WGS does exactly as the name suggests, it sequences the whole genome includes the noncoding regions. Exome sequencing has many advantages over WGS. Exome sequencing is much cheaper than WGS, coming in at a total of about $500 (Perkel, 2013, p. 262). Since the exon is much smaller than the whole genome, results are obtained at a faster rate and higher resolution than WGS. Some scientists think that exome sequencing is more beneficial than WGS because we only know how to interpret the exon of the genome (Perkel, 2013, p. 262). Although WGS produces more data (including the noncoding regions) this alone does not outweigh the fact that it is more expensive and provides results at a slower rate than exome …show more content…
One of the first examples of this occurred when a research group from Medical College of Wisconsin used exome sequencing to diagnose and treat a severe case of inflammatory bowel disease (IBD) in a young boy (Perkel, 2013, p. 263-264). Through exome sequencing, the researchers were able to discover a "single point mutation in the X-linked inhibitor of apoptosis (XIAP) gene" (Perkel, 2013, p. 264). After the discover of the mutated gene, the young boy was then treated with a cord blood transplant. This is not the only instance where exome sequencing was used to aid in diagnosis. There have been other instances where exome sequencing was used to diagnose genetic disorders. One instance occurred in a patient who was thought to have Bartter syndrome (a "renal salt-wasting disease"). This patient was proved to have a "homozygous missense D652N mutation in SLC26A3"(Ku, 2012, p. 9). This finding was significant, according to Ku (2012), because this gene is the known congenital chloride-losing diarrhea locus. After a follow up with the child 's pediatrician the diagnosis was confirmed, with the help of exome sequencing (Ku, 2012, p.