Genetics: The diagnostic frontier in pediatric urology. Issue 6 (December 2021)

• Record Type: Journal Article
• Authors: Kaefer, Martin; Bagli, Darius; Kalfa, Nicolas; Beckers, Goedele M.A.; Harper, Luke; Herbst, Katherine; Nieuwhof-Leppink, Anka; Fossum, Magdalena
• Is Part Of: Journal of pediatric urology. Volume 17:Issue 6(2021)
• Page Start: 803
• Page End: 804
• Publication Date: 2021-12
• Subjects: Genetics -- Epigenetics -- Whole exome sequencing -- Whole genome sequencing; Pediatric urology -- Periodicals; Urologic Diseases -- Periodicals; Urogenital Diseases -- Periodicals; Urologic Surgical Procedures -- Periodicals; Child; Infant; Urologie pédiatrique -- Périodiques; Appareil urinaire -- Maladies -- Périodiques; Pédiatrie; Urologie; Pediatric urology; Périodique électronique (Descripteur de forme); Ressource Internet (Descripteur de forme); Electronic journals; Periodicals; Electronic journals; 618.926
• DOI: 10.1016/j.jpurol.2021.09.011
• Languages: English
• ISSNs: 1477-5131

Abstract

Summary: In the course of human history few scientific breakthroughs can rival the importance of the discovery of DNA. Our ever increasing ability to unravel the secrets contained in this molecule allow new insight in to the etiology and eventual treatment of human conditions ranging from congenital structural disorders to cancer. It is the focus of this article to touch upon sequencing technologies and their potential to provide information that can revolutionize healthcare.