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008			170522s2017 sz o 001 0 eng d
020			_a3319564188 _q(electronic bk.)
020			_a9783319564180 _q(electronic bk.)
020			_z3319564161
020			_z9783319564166
040			_aYDX _cYDX _dN$T _dEBLCP _dGW5XE _dN$T _dUAB _dYDX _dOCLCO _dESU _dAZU _dUPM _dIOG _dOCLCO _dCOO _dMERER _dOCLCO _dOCLCQ _dOCLCO _dJG0 _dOCLCO _dU3W _dOCLCO _dOCLCA _dES-MaUEC _bspa
050		4	_aRB155.6 _bN498 2017 EB
245	0	0	_aNext generation sequencing based clinical molecular diagnosis of human genetic disorders _cLee-Jun C. Wong, editor.
264		1	_aCham _bSpringer _c2017.
300			_a1 recurso en línea
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_atext file _bPDF
500			_aIncluye índice
500			_aSpringerLink
505	0		_aPreface; Contents; Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders; 1 Introduction; 2 Traditional Step-Wise Molecular Diagnostic Approaches Are No longer Adequate; 3 Next Generation Sequencing; 4 Target Sequence Enrichment and NGS Platforms; 5 Clinical Validation; 6 Panel Design; 7 Examples of Clinical Application; 7.1 The Advantage of NGS-Based Analysis of Large Genes; 7.2 Pathway Driven Panel Analysis; 8 Caveats of Capture-Based NGS; 9 Allele Dropout: Pitfalls of Amplicon-Based Analysis.
505	8		_a10 Factors Affecting Diagnostic Yields of NGS-Based Panels11 Conclusion; References; Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Sequencing Data; 1 Introduction; 2 Strategies for NGS Based CNV Detection; 2.1 Paired-End Mapping Method; 2.2 Split-Read; 2.3 Depth of Coverage Based; 2.4 Assembly Based; 3 Procedures to Detect CNVs Based on Depth of Coverage; 3.1 Reference Samples; 3.2 DOC Based CNV Detection Using Exon as Sliding Window; 3.3 Normalization of the Depth of Sequence Read to the Total Amount of DNA Loaded to Sequencing Machine.
505	8		_a2.5 Variant Calls: Single Nucleotide Variants (SNVs) and CNVs3 Examples of Panels; 3.1 Overview of Panels; 3.2 Brief Description of Some Clinically Validated Panels; 3.2.1 Maple Syrup Urine Disease (MSUD); 3.2.2 Urea Cycle Disorders (UCD); 3.2.3 The Cobalamin Pathway; 3.2.4 Glycogen Storage Diseases (GSDs) and Other Similar Metabolic Pathways; 3.2.5 Maturity-Onset Diabetes of the Young (MODY); 3.2.6 Hyperinsulinism and Hypoglycemia; 4 Points for Consideration; 4.1 Single Gene Versus Panel Analysis, Panel Overlap; 4.2 Panel Size and Capture Library Size; 4.3 Advantages of Panels over WES.
505	8		_a3.4 Generation of Reference File3.5 Normalization of DOC of the Testing Sample (Second Normalization); 3.6 Detection and Visualization of CNVs; 4 Confirmation of CNV; 5 Sensitivity and Specificity; 6 Challenges and Issues; 7 Future; References; Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways; 1 Introduction; 2 NGS Based Panel Analysis: General Approach; 2.1 Design of NGS-Based Panels; 2.2 Enrichment of Target Genes; 2.3 Massively Parallel Sequencing: Clinical Validation; 2.4 Low Coverage and Homologous Regions.
505	8		_a5 ConclusionReferences; The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases; 1 Introduction; 2 The Clinical Utility of Molecular Testing for Eye Diseases; 3 Methodology; 4 Retinal Dystrophies; 4.1 Diagnostic Rates; 4.2 Inheritance Models; 4.3 Pathogenic Variants; 5 Retinoblastoma; 6 Congenital Cataracts; 7 Glaucoma; 8 Challenges; References; Application of Next-Generation Sequencing to Hearing Loss; 1 Introduction; 2 Syndromes that Include Hearing Loss; 3 Nonsyndromic Hearing Loss; 4 Significance of Early Hearing Loss Recognition and Genetic Testing.
520	3		_aNext Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.
988			_aEBOOK, EBSPRINGER_2017D
650		7	_2embne _aAnomalías cromosómicas _9677625
650		7	_2embne _aGenética médica _9144879
700	1		_aWong, Lee-Jun C. _984509
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-3-319-56418-0 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b02/2018 _dz _e- _zSI