{"product_id":"next-generation-sequencing-9781461470007","title":"Next Generation Sequencing","description":"\u003cb\u003eBook Synopsis\u003c\/b\u003e\u003cbr\u003eIn recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality.\u003cbr\u003e\u003cbr\u003e\u003cb\u003eTable of Contents\u003c\/b\u003e\u003cbr\u003ePart I: Overview.- History of DNA Sequencing Technologies.- Clinical Molecular Diagnostic Techniques: A Brief Review.- Part II: The Technologies and Bioinformatics.- Methods of Gene Enrichment and Massively Parallel Sequencing Technologies.- Sequence Alignment, Analysis, and Bioinformatics Pipelines.- Protein Structural Based Analysis for Variant Interpretation of Missense Variants at the Genomics Era: Using MNGIE Disease as an Example.- Algorithms and Guidelines for Interpretation of DNA Variants.- Part III: Application to Clinical Diagnostics.- NGS-based Clinical Diagnosis of Genetically Heterogeneous Disorders.- Molecular Diagnosis of Congenital Disorders of Glycosylation (CDG).- NGS Improves the Diagnosis of X-Linked Intellectual Disability (XLID).- NGS Analysis of Heterogeneous Retinitis Pigmentosa.- Next Generation Sequencing of the Whole Mitochondrial Genome.- Application of Next-Generation Sequencing of Nuclear Genes for Mitochondrial Disorders.- ​Noninvasive Prenatal Diagnosis Using Next Generation Sequencing.- Part IV: Compliance with CAP\/CLIA Regulations.- Guidelines and Approaches to Compliance with Regulatory and Clinical Standards: Quality Control Procedures and Quality Assurance.- Validation of NGS-based Test and Implementation of Quality Control Procedures.- Frequently Asked Questions about the Clinical Utility of Next Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases.- Index.","brand":"Springer-Verlag New York Inc.","offers":[{"title":"Default Title","offer_id":51019882463575,"sku":"9781461470007","price":224.99,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0817\/1739\/5799\/files\/9781461470007.jpg?v=1750781589","url":"https:\/\/bookcurl.com\/products\/next-generation-sequencing-9781461470007","provider":"Book Curl","version":"1.0","type":"link"}