China Education Equipment Purchasing Network News: According to Shanghai Kanu Biological Technology Co., Ltd., a special issue of exome sequencing was published in this issue of Genome Biology. An editorial about exome sequencing. In this article, Shendure discusses the opportunities and challenges of exome sequencing.
In 2009, the emergence of genome-directed capture tools made it possible to capture exomes. Scientists generally believe that exome sequencing has advantages over whole genome sequencing, especially for rare single-gene diseases. Not only is the cost lower, but the interpretation of the data is also simpler. Therefore, exome sequencing was also named the top ten breakthrough of the year by Science magazine last year.
This special issue, plus more than 200 published papers, also confirms the success of the emerging technology of exome sequencing. It can help identify the molecular defects of single-gene diseases and some genetic heterogeneous diseases, identify the repeatedly mutated genes in various cancers, and provide new insights into human evolution and population genetics. Due to the widespread application of this technology, more than 10,000 exomes have been sequenced to date.
For its wide application, Jay Shendure summarized five factors: 1) the widespread procurement of next-generation sequencers; 2) the emergence of excellent open source software, such as bwa and samtools; 3) the rapid development of exome capture reagents Commercialization, such as Agilent's SureSelect, Roche's Nimblegen's SeqCap; 4) The price of each sample is relatively low, making exome sequencing easier to popularize; 5) Multiple research teams have samples in hand and are motivated to develop exons Group sequencing.
However, the cost of whole-genome sequencing has fallen to thousands of dollars. If one day, the cost of exome sequencing and genome sequencing is almost the same, some people worry that exome sequencing is still necessary? So, Jay Shendure discussed the opportunities and challenges faced by this technology.
He believes that exome sequencing has failed to resolve a significant proportion of Mendelian phenotypes, even in model organisms whose genetic structure is already clear. If we hope to solve all Mendelian inherited diseases, it is crucial to understand the basis of these failures. At the same time, people are eager to understand the effect of rare mutations on common diseases. Many studies have started with exome sequencing, but it is still in progress because it requires a large number of samples to be persuasive.
Exome sequencing identified approximately 20,000 variations, while whole-genome sequencing identified 4 million variations. Although the separation of protein-altered variants from other variants has proven useful, it is undoubtedly rough. Moving from the exome to the genome, in order to increase the unknown signal, we have to bear a 100-fold increase in noise. Therefore, we need a more sophisticated method to assign more appropriate "prior values" for coding and non-coding variations.
Nonetheless, the author believes that exome sequencing represents "high-yielding genetics". With fewer samples of exome sequencing and moderate investment, new disease genes can be clearly identified. As the cost of analysis is further reduced and the precision of analysis is increased, the productivity of this model will also increase.
Camping And Hiking Gear,Outdoor Hiking Gear,Camping Hiking Gear,Backpacking Gear Near Me
Ningbo Fineweather International Trade Co., Ltd. , https://www.fwsbag.com