Implementation and clinical utility of the GATK gCNV pipeline for rare disease diagnostics using whole exome sequencing

Pavlović, Đorđe; Skakić, Anita; Klaassen, Kristel; Marjanović, Irena; Parezanović, Marina; Stevanović, Nina; Čuturilo, Goran; Branković, Marija; Bosankić, Brankica; Ruml Stojanovic, Jelena; Ristivojević, Bojan; Zukić, Branka; Stojiljković, Maja; Anđelković, Marina

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eNauka > Results > Implementation and clinical utility of the GATK gCNV pipeline for rare disease diagnostics using whole exome sequencing

Title:	Implementation and clinical utility of the GATK gCNV pipeline for rare disease diagnostics using whole exome sequencing
Authors:	Pavlović, Đorđe ; Skakić, Anita ; Klaassen, Kristel ; Marjanović, Irena ; Parezanović, Marina ; Stevanović, Nina ; Čuturilo, Goran; Branković, Marija; Bosankić, Brankica; Ruml Stojanovic, Jelena; Ristivojević, Bojan ; Zukić, Branka ; Stojiljković, Maja ; Anđelković, Marina ;
Issue Date:	2026
Publication:	Book of Abstracts: 6th Belgrade Bioinformatics Conference
Publisher:	Belgrade : Institute of Molecular Genetics and Genetic Engineering
Type:	Conference Paper
ISBN:	978-86-82679-17-2 Search Idenfier
Collation:	str. 96-96
URI:	https://imagine.imgge.bg.ac.rs/handle/123456789/3505 https://enauka.gov.rs/handle/123456789/1051139
Project:	BRIDGING-RD - BRIDGing the research and INnovation Gap for Rare Diseases in Europe by upgrading excellence of IMGGE
M-category:	Mp. category will be shown later

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