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Genetics for paediatric radiologists

Authors
  • Schirwani, Schaida1
  • Campbell, Jennifer1
  • 1 Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Chapeltown Rd., Leeds, LS7 4SA, UK , Leeds (United Kingdom)
Type
Published Article
Journal
Pediatric Radiology
Publisher
Springer-Verlag
Publication Date
Nov 02, 2020
Volume
50
Issue
12
Pages
1680–1690
Identifiers
DOI: 10.1007/s00247-020-04837-4
Source
Springer Nature
Keywords
License
Yellow

Abstract

An understanding of genetics and genomics is increasingly important for all clinicians. Next-generation genomic sequencing technologies enable sequencing of the entire human genome in short timescales, and are increasingly being implemented in health care systems. Clinicians across all medical specialties will increasingly use results generated from genomic testing to inform their clinical practice and provide the best quality of care for patients. These innovations are already transforming the diagnostic pathways for rare genetic diseases, including skeletal dysplasias, with an inevitable impact on the traditional roles of diagnosticians. This article covers the fundamentals of human genetics, mechanisms of genetic variation and the technologies used to investigate the genetic basis of disease, with a specific focus on skeletal dysplasias and the potential impact of genomics on paediatric radiology.

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