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Related Experiment Video

Updated: Dec 2, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Genetics for paediatric radiologists.

Schaida Schirwani¹, Jennifer Campbell²

¹Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Chapeltown Rd., Leeds, LS7 4SA, UK.

Pediatric Radiology

|November 2, 2020

Summary

This summary is machine-generated.

Genomic sequencing is revolutionizing healthcare, impacting rare diseases like skeletal dysplasias. Clinicians will increasingly use genomic testing results to enhance patient care and diagnostic pathways.

Keywords:

Children DNA Deoxyribonucleic acid Exome Genetics Genomics Heredity Imaging Radiology Skeletal dysplasias

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Area of Science:

Medical Genetics
Genomic Medicine
Radiology

Background:

Genetics and genomics are crucial for modern clinical practice.
Next-generation sequencing (NGS) technologies offer rapid whole-human-genome sequencing.
NGS is being integrated into healthcare systems, influencing patient care.

Purpose of the Study:

To review the fundamentals of human genetics and genetic variation.
To discuss genomic technologies for disease investigation.
To focus on skeletal dysplasias and the impact of genomics on pediatric radiology.

Main Methods:

Review of current literature on human genetics and genomics.
Explanation of next-generation sequencing technologies.
Case examples focusing on skeletal dysplasias and pediatric radiology.

Main Results:

Genomic testing is transforming diagnostic pathways for rare genetic diseases.
Clinicians across specialties will increasingly rely on genomic data.
The role of diagnosticians is evolving due to genomic advancements.

Conclusions:

Genomics is essential for clinicians to provide optimal patient care.
Genomic technologies are critical for diagnosing rare genetic conditions like skeletal dysplasias.
The integration of genomics will reshape pediatric radiology and diagnostics.