• The current benefit of genome...

Result: The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

Title:
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies
Authors:
Grether, Anna, Ivanovski, Ivan, Russo, Martina, Begemann, Anaïs, Steindl, Katharina, Abela, Lucia, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Joset, Pascal, Rauch, Anita
Contributors:
University of Zurich
Source:
Mol Genet Genomic Med
Molecular Genetics & Genomic Medicine, Vol 11, Iss 5, Pp n/a-n/a (2023)
Publisher Information:
Wiley, 2023.
Publication Year:
2023
Subject Terms:
whole genome sequencing, Brain Diseases, Whole Genome Sequencing, 10039 Institute of Medical Genetics, Genome, Human, 610 Medicine & health, Original Articles, QH426-470, whole exome sequencing, 03 medical and health sciences, epileptic encephalopathy, 0302 clinical medicine, 10036 Medical Clinic, U9 Adaptive Brain Circuits in Development and Learning (AdaBD), diagnostic yield, Exome Sequencing, Genetics, 570 Life sciences, biology, Humans, Molecular Biology, Genetics (clinical), Retrospective Studies
Document Type:
Academic journal Article<br />Other literature type
File Description:
Molec_Gen___Gen_Med___2023___Grether___The_current_benefit_of_genome_sequencing_compared_to_exome_sequencing_in_patients.pdf - application/pdf
Language:
English
ISSN:
2324-9269
DOI:
10.1002/mgg3.2148
DOI:
10.5167/uzh-231019
Access URL:
https://pubmed.ncbi.nlm.nih.gov/36785910
https://doaj.org/article/20cbd16de29d47a0bd33738cb7db2bc9
Rights:
CC BY NC
Accession Number:
edsair.doi.dedup.....e2a41c89cca5216b8f445818c692fe8c
Database:
OpenAIRE

Further Information

BackgroundAs the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome sequencing (WGS) increases. Thereby, it remains unclear what exact advantage WGS offers in comparison to whole exome sequencing (WES) for the diagnosis of genetic diseases using current technologies.MethodsTrio‐WGS was conducted for 20 patients with developmental or epileptic encephalopathies who remained undiagnosed after WES and chromosomal microarray analysis.ResultsA diagnosis was reached for four patients (20%). However, retrospectively all pathogenic variants could have been detected in a WES analysis conducted with today's methods and knowledge.ConclusionThe additional diagnostic yield of WGS versus WES is currently largely explained by new scientific insights and the general technological progress. Nevertheless, it is noteworthy that whole genome sequencing has greater potential for the analysis of small copy number and copy number neutral variants not seen with WES as well as variants in noncoding regions, especially as potentially more knowledge of the function of noncoding regions arises. We, therefore, conclude that even though today the added value of WGS versus WES seems to be limited, it may increase substantially in the future.