Meeting abstract
https://doi.org/10.26800/LV-145-supl2-CR79
Whole Genome Joint Analysis for identification of rare non-coding causative variants - case report of a child with mitochondrial disease
Dina Gržan
; School of Medicine, University of Zagreb, Zagreb, Croatia
Marjan Kulaš
Lea Jukić
Petra Sulić
Mario Ćuk
Abstract
Pediatric genetic conditions are caused by a spectrum of genomic alterations, including non-coding variants, which often fail to be identified
using low throughput methods. Whole genome sequencing (WGS) can detect the full spectrum of genome alterations simultaneously, comprehensively, and unbiasedly.
Keywords
Mitochondrial Diseases; Mutation; Whole Genome Sequencing
Hrčak ID:
304023
URI
Publication date:
23.4.2023.
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