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Diagnostic genetic testingcore concepts and the wider context for human DNA analysis /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Diagnostic genetic testingby David Bourn.
Reminder of title:	core concepts and the wider context for human DNA analysis /
Author:	Bourn, David.
Published:	Cham :Springer International Publishing :2022.
Description:	xxii, 131 p. :ill. (some col.), digital ;24 cm.
Contained By:	Springer Nature eBook
Subject:	Human chromosome abnormalitiesDiagnosis.
Online resource:	https://doi.org/10.1007/978-3-030-85510-9
ISBN:	9783030855109$q(electronic bk.)

Diagnostic genetic testingcore concepts and the wider context for human DNA analysis /
Bourn, David.

Diagnostic genetic testingcore concepts and the wider context for human DNA analysis /[electronic resource] :by David Bourn. - Cham :Springer International Publishing :2022. - xxii, 131 p. :ill. (some col.), digital ;24 cm.

Genetic 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.

Over 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.

ISBN: 9783030855109$q(electronic bk.)

Standard No.: 10.1007/978-3-030-85510-9doiSubjects--Topical Terms:

329150
Human chromosome abnormalities
--Diagnosis.

LC Class. No.: RB155.6 / .B68 2022

Dewey Class. No.: 616.042

Diagnostic genetic testingcore concepts and the wider context for human DNA analysis /
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520 $a Over 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.
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