Diagnostic genetic testing : core concepts and the wider context for human DNA analysis

Diagnostic genetic testing : core concepts and the wider context for human DNA analysis / David Bourn.

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 diagn...

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Bibliographic Details
Main Author: Bourn, David (Author)
Format: eBook
Language:English
Published: Cham, Switzerland : Springer, [2022]
Subjects:
Human chromosome abnormalities > Diagnosis.
Human chromosome abnormalities > Diagnosis
Online Access:Click for online access
Table of Contents:
  • 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.

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