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008			130531s2013 xxu| s 000 0|eng d
020			_a9781461470014
024	7		_a10.1007/978-1-4614-7001-4 _2doi
050		4	_aRB155.6 _bN49 2013 EB
082	0	4	_a611.01816
082	0	4	_a599.935
245	0	0	_aNext Generation Sequencing : _bTranslation to Clinical Diagnostics _cedited by Lee-Jun C. Wong
260			_aNew York _bSpringer International Publishing _c2013
300			_a1 recurso en línea (XI, 302 p.) _b33 ilustraciones, 27 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
505	0		_aPart 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
520			_aIn 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. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future
942			_2lcc _cLE
988			_aEBOOK, EBSPRINGERrevisado
650	0	7	_aCromosomas _0LocalV _2embne _9139992
650		7	_aSecuenciación de ácidos nucleicos _9163038 _0comprobar BNE20040485434 _2embne
700	1		_aWong, Lee-Jun C. _eeditor literario _984509 _0Local
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-1-4614-7001-4 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
907			_a.b12815895 _b10-10-17 _c01-10-14
998			_am _a_alco _a_vill _b26-04-17 _cm _dz _eu _feng _gxxu _h0
945			_aRB155.6 N49 2013 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11545276 _z06-04-17
999			_c75971 _d75971 _x1