Titlebook: Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders; Lee-Jun C. Wong Book 2017 Springer International

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Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion,atment of patients with these rare conditions. These disorders include single-gene defects associated with increased insulin secretion, causing hypoglycemia, and decreased insulin secretion, resulting in diabetes..Mutations in at least 40 genes have been identified through studies using genetic link

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Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases,the myocardium, and the heart’s electrical circuit, and congenital heart disease (CHD). In the etiology of most CVDs, a clear hereditary component has been demonstrated. CVDs can be divided in two major categories: the monogenic and the polygenic/multifactorial forms and have long been at the forefr

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Comprehensive Analyses of the Mitochondrial Genome,variant (SNV) across the entire coding regions, as well as structural variations such as large deletions with mapping of the breakpoints. Traditionally, diagnosis of mtDNA-related disorders is achieved by employing step-wise procedures, such as PCR based Sanger sequencing for SNV, real time quantita

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Family-Based Next-Generation Sequencing Analysis, of NGS, family-based sequencing analysis has been increasingly used to identify causal genes for Mendelian disorders and to aid the rare variants association analysis for common complex traits. By incorporating relatedness among family members, several family-based variant calling algorithms have b

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Next Generation of Carrier Screening,esting used targeted genotyping panels to detect common mutations among specific ethnic groups. While the sensitivity of this approach is generally acceptable, private or ultra-rare mutations will be missed. Next generation sequencing (NGS) has been adopted in recent years for carrier screening in o

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https://doi.org/10.1007/978-3-319-56418-0NGS; bioinformatics; exome; genetics; genomics; mitochondrial