Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

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Savarese , M , Välipakka , S , Johari , M , Hackman , P & Udd , B 2020 , ' Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? ' , Journal of Neuromuscular Diseases , vol. 7 , no. 3 , pp. 203-216 . https://doi.org/10.3233/JND-190459

Title: Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?
Author: Savarese, Marco; Välipakka, Salla; Johari, Mridul; Hackman, Peter; Udd, Bjarne
Contributor organization: Department of Medical and Clinical Genetics
Biosciences
Medicum
Date: 2020
Language: eng
Number of pages: 14
Belongs to series: Journal of Neuromuscular Diseases
ISSN: 2214-3599
DOI: https://doi.org/10.3233/JND-190459
URI: http://hdl.handle.net/10138/327455
Abstract: Human genes have a variable length. Those having a coding sequence of extraordinary length and a high number of exons were almost impossible to sequence using the traditional Sanger-based gene-by-gene approach. High-throughput sequencing has partly overcome the size-related technical issues, enabling a straightforward, rapid and relatively inexpensive analysis of large genes. Several large genes (e.g. TTN, NEB, RYR1, DMD) are recognized as disease-causing in patients with skeletal muscle diseases. However, because of their sheer size, the clinical interpretation of variants in these genes is probably the most challenging aspect of the high-throughput genetic investigation in the field of skeletal muscle diseases. The main aim of this review is to discuss the technical and interpretative issues related to the diagnostic investigation of large genes and to reflect upon the current state of the art and the future advancements in the field. © 2020 - IOS Press and the authors. All rights reserved.
Subject: copy number variants (CNV)
genetic diagnosis
Large genes
variant interpretation
variants of uncertain significance (VUS)
connectin
nebulin
RNA binding protein
ryanodine receptor 1
alternative RNA splicing
biological model
computer model
copy number variation
deep learning
DMD gene
gene
gene size
genetic variability
human
induced pluripotent stem cell
missense mutation
myopathy
NEB gene
nonhuman
pathophysiology
priority journal
Review
RNA sequencing
RYR1 gene
single nucleotide polymorphism
TTN gene
1184 Genetics, developmental biology, physiology
Peer reviewed: Yes
Rights: cc_by_nc
Usage restriction: openAccess
Self-archived version: publishedVersion


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