CD GENOMICS

Background In recent years, with the further development of high-throughput sequencing technology, the cost of sequencing has continued to decrease, and whole-exome sequencing  (WES) has been increasingly applied to genetic disease detection, which has improved the diagnosis rate of diseases. The Question However, it comes with the question: does the widely used whole-genome sequencing (WGS) currently suitable for clinical application? It is likely that whole-genome sequencing will subsume genetic testing for individual or even panels of genes, replacing individual genotyping  assays with a comprehensive assessment of genetic variation. 1. Doctors are too tired to analyze and explain so many VUS, laboratory data analysis and clinical is in disjunction. Is there any reanalysis for undiagnosed cases and re-collection of clinical phenotypes is not yet determined. 2. The whole genome sequencing cost  is high, and the information that could be read out is l...

Background In recent years, with the further development of high-throughput sequencing technology, the cost of sequencing has continued to decrease, and  whole-exome sequencing  (WES) has been increasingly applied to genetic disease detection, which has improved the diagnosis rate of diseases. However, it comes with the question: does the widely used  whole-genome sequencing  (WGS) currently suitable for clinical application? The study On March 22nd, Genet Med. published an article online (PMID: 29565419) entitled Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing. There have been few previous comparisons of WGS and WES for the detection rate of genetic diseases. After screening, a total of 108 patients were enrolled in the WGS analysis. Their gene chip and WES test both showed negative results and their clinical data and previous  sequencing raw data  were preserved intact. A...

Analyzing Soil Microbial Community Structure Using High-throughput Sequencing Technology and the Results As an important part of the soil and the ecosystem, soil microbes  play an important role in soil formation and development, organic matter decomposition, material transformation and energy transfer, as well as in earth biochemical cycle and bioremediation. The role of soil microbes in environment, or in other words, the functional diversity of microorganisms, is mainly achieved through a variety of metabolic and physiological functions. Therefore, microbial diversity can be considered as an important indicator for assessing soil changes caused by natural or man-made disturbances. Because microbes have such an obvious effect on ecosystems, studying them will have far-reaching implications. In recent years, the vulnerability of ecosystem in some places has attracted much attention from researchers. Wetland, for example, soil microbes have been quite vital for...

What is 18S rRNA? 18S ribosomal RNA (18S rRNA) is a component of the small eukaryotic ribosomal subunit (40S), and 40S and 60S constitute eukaryotic ribosomes. As a structural RNA for eukaryotic ribosomes, 18S rRNA, the homologue of 16S rRNA in prokaryotes and mitochondria, is thus one of the essential components of all eukaryotic cells. 18S rRNA genes that code for 18S rRNA are widely used in phylogenetic analysis and environmental biodiversity screening. Figure 1. Prokaryotic 70S ribosome and eukaryotic 80S ribosome. 18S rRNA as a marker for biodiversity studies 18S rRNA gene is a common molecular marker for biodiversity studies since it is highly conserved intra-species (similarities close to 100%) and assist in species-level analyses. Similar to 16S rRNA, 18S rRNA gene has nine variable regions (V1-V9). Previous studies tested the taxonomic resolutions of 18S rRNA gene at different taxonomic levels (Wu  et al . 2015) come to the following conclusions: i.  full...