TAILIEUCHUNG - The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases

Next-generation sequencing (NGS) is a high throughput sequencing technology, which has revolutionized both basic and clinical research of the human genetic disorders. This technology is also called massively parallel sequencing (MPS) due to its ability to generate a huge amount of output data in a cost- and time-effective manner. NGS is widely utilized for different sequencing applications such as targeted sequencing (a group of candidate genes), exome sequencing (all coding regions), and whole genome sequencing (the entire human genome). With NGS, a variety of genomic aberrations can be screened simultaneously such as common and rare variants, structural variations (amplifications and deletion), copy-number variation, and fusion transcripts. NGS technologies combined with advanced bioinformatic analysis have tremendously expanded our knowledge. On the one hand, the basic research area involves direct use of NGS to identify novel variations and determine human disease mechanisms. On the other hand, clinical research is being advanced by highthroughput genetic tests with high resolution and clinically relevant genetic information for molecular diagnoses of human disorders. In this communication, we introduce NGS technologies and review a few key areas where NGS has made a significant impact, with an emphasis on the application of NGS to the identification of the molecular bases of human genetic diseases. | The applications of massive parallel sequencing (next-generation sequencing) in research and molecular diagnosis of human genetic diseases

• Y khoa - Dược
• Human genetic diseases
• Massively parallel sequencing
• Molecular diagnosis
• Next generation sequencing
• Next generation sequencing
• Orphan diseases
• Drug repositioning
• Antagonistically modulated
• Human disease genes
• Orphan genetic diseases
• Genome Biology
• Genetic architecture
• Statistical method
• R package
• Highly polygenic phenotypes
• DNA methylation
• Gene expression
• Complex traits and diseases
• Immune stimulation
• Human genetic diversity
• Major histocompatibility complex
• Human leukocyte antigen
• Major risk factors
• Including large genetic screens
• Different diseases
• Different Shades
• LEED System in Brief
• Biomedical Importance
• Host Genetic Factors
• Infectious Diseases
• Emerging Diseases
• General Epidemics
• Mathematical Approach
• Methylation quantitative trait loci
• Genetic association
• Complex diseases
• Disease gene
• Network based approach
• Biological network
• Hierarchical closeness
• Fatal genetic diseases
• trình bày báo cáo
• tài liệu báo cáo khoa học
• nghiên cứu y học
• báo cáo y học
• kiến thức y học
• BMC Biotechnology
• Mouse model
• Cas9 system
• Off target effects
• BMC Genomics
• Kinome gene expression
• NGS RNA targeted panel
• Several human diseases
• Genetic alterations
• Venous Thromboembolism
• Certain Groups of Patients
• Neonates
• Children and Patients
• Chronic Renal
• Molecular recognition features
• Intrinsically disordered protein
• Position specific scoring matrix
• Biological functions