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008			230114s2022 sz | s |||| 0|eng d
020			_a9783030855109
024	7		_a10.1007/978-3-030-85510-9 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRB155.6 _b2022 EB
100	1		_aBourn, David _eauthor. _4aut _4http://id.loc.gov/vocabulary/relators/aut _9685983
245	1	0	_aDiagnostic Genetic Testing : _bCore Concepts and the Wider Context for Human DNA Analysis _cby David Bourn
250			_a1st edition 2022
264		1	_aCham _bSpringer International Publishing _c2022
300			_a1 recurso en línea (XXII, 131 páginas) _b17 ilustraciones, 13 ilustraciones a color
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_aarchivo de texto _bPDF
505	0		_aGenetic Testing, Some Themes and Some Basics -- Autosomal Dominant Inheriance and Huntington Disease -- Autosomal Recessive Inheritance and Cystic Fibrosis -- X-linked Inheritance: a Question of Gender -- Genetics Testing in Cancer -- DNA Testing, Genes and Identity -- Out of Sequence: Genome-Scale Testing -- DNA Testing: Pulling the Strands Together.
520			_aOver the last decade, technical advances have allowed genomic testing which provides a great opportunity for diagnosis but also an increased chance of uncertain or unexpected findings. This book addresses many of the questions that arise in this context and summarizes the essential concepts in diagnostic genetic testing in an easy-to-read manner. It also covers some broad context for the practical and ethical implications of examining human DNA sequences. The book starts with a general introduction to the field, providing enough background to allow readers without any previous education in genetics to comprehend the material in the subsequent chapters. The main part explores differing aspects of human genetics and the wider implications of testing in these areas. The author covers not only single gene inheritance, but also genetic testing of cancers and how testing benefits the patients. Special emphasis is also given to the questions of genetics and identity. The concluding part then draws the main themes together and summarises the wider significance of genetics. It also explores the gap between promises made for the impact of advances in genetics, and the actual benefits to patients. The book is written for everyone interested to learn about the process of genetic testing and the broader implications. Moreover, it is aimed at health professionals with an interest in genetics, at students or scientific trainees looking for an introduction to diagnostic genetics, and at professionals in health policy or health journalism.
988			_aSpringer_BiomedLife_2022
650		7	_2embne _9677625 _aAnomalías cromosómicas
650		7	_2embne _9140562 _aGenética humana
776	0	8	_iPrinted edition: _z9783030855093
776	0	8	_iPrinted edition: _z9783030855116
776	0	8	_iPrinted edition: _z9783030855123
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-030-85510-9 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b01/2023 _dz _eIG _zSI