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genome-wide association scans

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Chapter 56 - Genetics and Gynaecological Disease
from Section 11 - Public Health Issues in Gynaecology
- By Isabella Borg, Nikolai Paul Pace
Edited by Tahir Mahmood, Charles Savona-Ventura, Ioannis Messinis, Sambit Mukhopadhyay
Book:

The EBCOG Postgraduate Textbook of Obstetrics & Gynaecology

Published online:

24 November 2021

Print publication:

02 December 2021, pp 483-490
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Summary

The large number of gene–disease associations that have been discovered through the use of high-throughput genomics have revolutionized our understanding of complex disease biology. Genomics holds ample scope from the clinical perspective, particularly with regards to disease risk prediction, improving disease classification, risk stratification and drug selection. Elucidating the functional impact of genomic variants is a critical challenge that should further facilitate the ‘bench to bedside’ translation. Additionally, healthcare systems need to acknowledge the necessity of updating and adapting current practices to ensure direct and cost-effective translation of modern genomics to the clinic.