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

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Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Seqlished methods to detect CNVs are array comparative genomic hybridization (aCGH) and MPLA. With the fast adaption of next generation sequencing (NGS) in the clinical sequencing, increasing interest has been attributed to the detection of CNV from NGS data. In this chapter, we describe an easy-to-imp

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Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways,ommon metabolic pathways that may consist of a series of reactions and other related reactions. One example is methylmalonic aciduria (MMA) due to defects in the conversion of methylmalonylCoA to succinylCoA, which requires a mutase and a cofactor; the adenosylcobalamin (adoCbl). Vitamin B12 is an i

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The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases, the etiology of visual impairments is both complex and multifactorial, genetic factors have been shown to play important roles. Both common and rare genetic variants have been associated with various types of inherited visual disorders. Studying the genetics of visual impairments can help to confir

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Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases,sually present with recurrent or severe infections and can be difficult to manage with conventional treatments. The types of infections in patients with PIDs are related to which arm of the immune system is affected, and often provide the first clues to the nature of the immunologic defect. Without

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Next-Generation Sequencing Based Testing for Disorders of the Skeleton,nical practice. The presentations and etiologies of genetic forms of skeletal disorders are very heterogeneous; therefore, they can be challenging to diagnose. An accurate diagnosis is very important for counseling regarding the natural history and recurrence risks as well as for appropriate managem

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