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Updated: May 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The era of genomic medicine
1University of Oxford, Oxford, UK.
Abstract:
It is becoming increasingly clear that genomics is beginning to have a major impact in guiding diagnoses and treatment of many disorders. As the cost of DNA sequencing continues to drop and more patient genomes are sequenced, the challenge is to deliver this knowledge to the clinic, particularly in cancer. DNA sequencing of patients with rare disease is revealing novel druggable pathways for more common disorders. Genetic tools for treating disease are also advancing rapidly. Genetic approaches, thought to be pipedreams five years ago for diseases such as Duchenne muscular dystrophy, are now showing promise in clinical trials and many of these methodologies are being applied more widely for other diseases. The era of genomic medicine has arrived.
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