Next Generation Sequencing Of Human Diseases - 885 Words

Topic Four: Next-generation Sequencing in Human Diseases Exome Sequencing Revealed LDLR and APOA5 Genes are linked with Myocardial Infarction1 Exome sequencing is one of the targeted sequencing method, its sequences only exome part of DNA. With only 1% length of the whole genome, the exome contains about 85% of key mutation sites for gene-related diseases. The gene variants on the DNA coding regions, exons, can be detected and the phenotype corresponding to each variant give information on potential gene-disease relationship. Following studies on how these variant genes are regulated and expressed can be conducted to give a comprehensive understanding of the gene function. Compared with whole-genome sequencing, exome sequencing has shorter sequencing time and lower cost2. We only need one day to prepare a exome gene library with around 5GB data3. The exome sequencing allows the study to focus on only the suspected genes to the disease rather than all genes. Genetic disease and cancer studies are intensively using this sequencing method currently4. Like other next-generation sequencing methods, three general steps are required for exome sequencing: library creation, sequencing, and data analysis. The size and quality of testing samples are screened before establishing the library. In library creating step, DNA molecules are fragmented into a suitable size according to the machine and fused with platform-specific adapters. After size selection and free adapterShow MoreRelatedNext Generation Sequencing Is The Method Of Determining The Order Of Nucleotides1362 Words   |  6 PagesNEXT GENERATION SEQUENCING Introduction DNA sequencing is the method of determining the order of nucleotides in DNA. It includes the method that is used to determine the order of four bases -adenine, thymine, guanine and cytosine in DNA. DNA sequencing has greatly accelerated research and discovery in biological and medical field. The first DNA sequence was obtained using two-dimensional chromatography, in the early 1970s by academic researchers which was laborious. Now DNA sequencing has becomeRead MoreChromosomal Abnormalities And Single Gene Disorders875 Words   |  4 PagesChromosomal abnormalities and single-gene disorders are major causes of different complicated human diseases including cancer (Grade, Difilippantonie, and Camps, 2015). Identification of chromosomal abnormalities and single-gene defects is crucial step in diagnosis and treatment of various diseases. Currently, clinical laboratories are applying different types of molecular diagnostics methods to detect chromosomal abnormalities and single-gene diso rders (Mahdieh and Rabbani, 2013). Chromosomal AbnormalitiesRead MoreThe Human Genome and DNA Sequencing1335 Words   |  5 Pagesbuild that organism. In humans, more than 3 billion DNA base pairs are present. 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In the past few decades, more than a thousand of rare Mendelian diseases causative genes have been identified by combination of linkage analysis with positional cloning (http://omim.org/). However, this strategy does not have enough