Complex chromosomal 6q rearrangements revealed by combined long-molecule genomics technologies.

Autor: Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Department of Genetics, Kitasato University Hospital, Sagamihara 252-0375, Japan., Numabe H; Department of Pediatrics, Tokyo Metropolitan Kita Medical Rehabilitation Center for the Handicapped, Kita-ku, Tokyo, 114-0033, Japan., Mitsuhashi S; Department of Neurology, St.Marianna University School of Medicine Hospital, Kawasaki 216-8511, Japan., Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama 236-0004, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama 236-0004, Japan., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Misawa K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; RIKEN Center for Advanced Intelligence Project, Chuo-ku, Tokyo 103-0027, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama 236-0004, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama 236-0004, Japan; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama 236-0004, Japan. Electronic address: naomat@yokohama-cu.ac.jp.
Jazyk: angličtina
Zdroj: Genomics [Genomics] 2024 Sep; Vol. 116 (5), pp. 110894. Date of Electronic Publication: 2024 Jul 15.
DOI: 10.1016/j.ygeno.2024.110894
Abstrakt: Technologies for detecting structural variation (SV) have advanced with the advent of long-read sequencing, which enables the validation of SV at a nucleotide level. Optical genome mapping (OGM), a technology based on physical mapping, can also provide comprehensive SVs analysis. We applied long-read whole genome sequencing (LRWGS) to accurately reconstruct breakpoint (BP) segments in a patient with complex chromosome 6q rearrangements that remained elusive by conventional karyotyping. Although all BPs were precisely identified by LRWGS, there were two possible ways to construct the BP segments in terms of their orders and orientations. Thus, we also used OGM analysis. Notably, OGM recognized entire inversions exceeding 500 kb in size, which LRWGS could not characterize. Consequently, here we successfully unveil the full genomic structure of this complex chromosomal 6q rearrangement and cryptic SVs through combined long-molecule genomic analyses, showcasing how LRWGS and OGM can complement each other in SV analysis.
Competing Interests: Declaration of competing interest The authors declare no competing interests.
(Copyright © 2024. Published by Elsevier Inc.)
Databáze: MEDLINE
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