Next Generation Sequencing Of Human Diseases

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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 adapter
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