@inbook{038cf306faf94190a64c016cecaa8f49,
title = "Neurogenetic Variant Analysis by Optical Genome Mapping for Structural Variation Detection-Balanced Genomic Rearrangements, Copy Number Variants, and Repeat Expansions/Contractions",
abstract = "Structural variants in the human genome have been associated with several neurological disorders. Syndromic neurodevelopmental delay has been reported to be caused by recurrent copy number variants (CNVs) at specific genomic loci as a result of non-allelic homologous recombination and concomitant inversions, translocations, deletions, or duplications accounting for some well-known developmental delay syndromes. Also, tandem repeat contractions and expansions can alter the function of several genes and result in a number of unique neuromuscular disorders, such as facioscapulohumeral muscular dystrophy type 1 (FSHD), fragile-X syndrome, and amyotrophic lateral sclerosis (ALS). As a result, genome-wide structural variation analysis is recommended for the accurate diagnosis of neurodevelopmental delay and intellectual disabilities. In addition to pediatric developmental disorders, somatic mosaicism in the brain has been reported in various genetic neurodegenerative disorders. In order to detect and study structural variants related to neurologic disorders, many genomic technologies are applied in clinical and translational research. Optical genome mapping (OGM) is a new method for the analysis of all classes of structural variants including CNVs, balanced translocations, inversions, repeat expansions, and repeat contractions. Furthermore, OGM allows the detection of mosaicism both for germ line and somatic variants. This single technology can therefore be applied to a broad range of clinically relevant structural variants.",
keywords = "Aneuploidies, CNV, Copy number variant, Cytogenetics, Cytogenomics, OGM, Optical genome mapping, Postnatal genetic testing, Prenatal genetic testing, SV, Somatic mosaicism, Chromosomal aberrations, Structural variant",
author = "Hayk Barseghyan and Pang, {Andy W.C.} and Yang Zhang and Sahajpal, {Nikhil S.} and Yannick Delpu and Lai, {Chi Yu Jill} and Joyce Lee and Chloe Tessereau and Mark Oldakowski and KOLHE RAVINDRA and Henry Houlden and Nagy, {Peter L.} and Bossler, {Aaron D.} and Alka Chaubey and Hastie, {Alex R.}",
note = "Publisher Copyright: {\textcopyright} 2022, The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.",
year = "2022",
doi = "10.1007/978-1-0716-2357-2_9",
language = "English (US)",
series = "Neuromethods",
publisher = "Humana Press Inc.",
pages = "155--172",
booktitle = "Neuromethods",
}
