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Whole Exome Sequencing (WES)It is estimated that most disease-causing mutations (around 85%) of clinically important sequence variants occur within the regions of the genome that encode proteins. While similar to whole genome sequencing (WGS), WES reads only the parts of the human genome that encode proteins, leaving the other regions of the genome unread (Choi, 2009). Since most of the errors that occur in DNA sequences that then lead to genetic disorders are located in the exons, sequencing of the exome is being explored as a more efficient method of analyzing an individual's DNA to discover the genetic cause of diseases or disabilities. It has been theorized that sequencing of the human exome can be used to identify genetic variants in individuals to diagnose diseases.
Gene panel testing for AMD is aimed at identifying individuals at risk of developing advanced AMD. Genetic variants associated with AMD account for approximately 70% of the risk for the condition (Gorin, 2012). Over 25 genes have been reported to influence the risk of developing AMD, discovered originally through family-based linkage studies, and then through large genome-wide association studies. Genes influencing several biological pathways, including genetic loci associated with the regulation of complement, lipid, angiogenic and extracellular matrix pathways, have been associated with the onset, progression and involvement of early, intermediate and advanced stages of AMD.
Whole Exome SequencingWhile similar to WGS, WES reads only the parts of the human genome that encode proteins. Since most of the errors that occur in DNA sequences that then lead to genetic disorders are located in the exons, sequencing of the exome is being explored as a more efficient method of analyzing an individual's DNA to discover the genetic cause of diseases or disabilities. Various applications of WES are being explored including but not limited to determining if sequencing of the human exome can be used to identify genetic variants in individuals in order to diagnose diseases in individuals without the processing complexity associated with WGS.
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Owing to the shortage of non-renewable energy sources, such as petroleum and natural gas, the search for energy derived from alternative sources has received increased attention. Considering this scenario, the development of renewable energy production and storage technologies is one of the most significant scientific challenges of the twenty-first century.11 Suntivich, J.; Gasteiger, H. A.; Yabuuchi, N.; Nakanishi, H.; Goodenough, J. B.; Shao-Horn, Y.; Nat. Chem. 2011, 3, 546.,22 Gonçalves, J. M.; da Silva, M. I.; Angnes, L.; Araki, K.; J. Mater. Chem. A 2020, 8, 2171. Accordingly, it is not surprising that massive efforts have been made to discover more efficient and cost-effective catalysts for the use in electrochemical energy conversion processes.33 Gasteiger, H. A.; Markovi, N. M.; Science 2009, 324, 48.,44 Whitesides, G. M.; Crabtree, G. W.; Science 2007, 315, 796. 2b1af7f3a8