Next generation sequencing (NGS), is also referred to as a high-throughput sequencing. It is used to refer to a series of distinct modern sequencing technologies such as SOLiD, Roche 454, PGM, and Illumina sequencing (Muzzey, Evans, & Lieber, 2015). These advanced technologies makes it possible to sequence RNA and DNA easily and low-priced as opposed to the previously used Sanger sequencing. Nonetheless, these advancements have revolutionized the research of molecular and genomic biology. In that, due to its unprecedented throughput, speed and scalability, NGS empowers researchers to learn about the biological systems at a rate that has never been recorded before.
How NGS Works with ALS
Among all the amyotrophic lateral sclerosis (ALS) cases, an estimate of 10% is familial ALS (FALS), which has a dominant inheritance approach. The frequently encountered genes in FALS includes SODI, FUS, VCP and TDP-43 (Rothberg, Hinz, Rearick, Schultz, Mileski, Davey, M., & ... Clark, 2011). FALS are caused by mutations found in these genes. However, approximately 50% of ALS families are still unexplained even after carrying out a genetic testing. Notably, recent NGS-based research carried out by Herdewyn and colleagues have pointed out various genetic causes which explain these occurrences. Through the performing of WGS, they were able to identify four mutations found in the PFN1 gene that causes FALS. The four mutations include p.C71G, p.M114T, p.E117G, and p.G118V (Petrucelli & Gitler, 2017). Therefore, NGS has made stride steps in learning about the genetic causes of these diseases.
Several forms of neurodegenerative disorders were discovered such as frontotemporal dementia (FTD), ALS, Parkinsons disease (PD), and Alzheimers disorder (AD). These are highly sophisticated disorders that require a more complex genetic analysis which is provided by the NGS. NGS comes with the capability of dramatically up surging the speed at which DNA can be sequenced at a lower cost of the previous sequencing technology (Metzker, 2010). Therefore, the modern technology of NGS functions based on the principle of massively parallel sequencing. In that, thousands or millions of DNA segments can be sequenced promptly.
Metzker, M. (2010). Sequencing technologies the next generation. Macmillan Publishers Limited, 31-46.
Muzzey, D., Evans, E. A., & Lieber, C. (2015). Understanding the Basics of NGS: From Mechanism to Variant Calling. Current Genetic Medicine Reports, 3(4), 158-165. Doi: 10.1007/s40142-015-0076-8.
Petrucelli, L., & Gitler, A. D. (2017). Unlocking the mystery of ALS. Scientific American, 316(6), 46-51.
Rothberg, J. M., Hinz, W., Rearick, T. M., Schultz, J., Mileski, W., Davey, M., & ... Clark, T. A. (2011). An integrated semiconductor device enabling non-optical genome sequencing. Nature, 475(7356), 348-352. Doi: 10.1038/nature10242.
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