Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements

Most chromosomal aberrations revealed by chromosomal microarray testing (CMA) are simple; however, very complex chromosomal structural rearrangements can also be found. Although the mechanism of structural rearrangements has been gradually revealed, not all mechanisms have been elucidated. We analyz...

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Veröffentlicht in:	American journal of medical genetics. Part A 2023-01, Vol.191 (1), p.112-119
Hauptverfasser:	Tamura, Takeaki, Yamamoto Shimojima, Keiko, Okamoto, Nobuhiko, Yagasaki, Hiroshi, Morioka, Ichiro, Kanno, Hitoshi, Minakuchi, Yohei, Toyoda, Atsushi, Yamamoto, Toshiyuki
Format:	Artikel
Sprache:	eng
Schlagworte:	alternative nonhomologous end‐joining (NHEJ) chromoanasynthesis Chromosome Aberrations Chromosome rearrangements chromothripsis complex chromosomal rearrangement Conformation Copy number Correlation analysis DNA Copy Number Variations - genetics Gene Rearrangement - genetics Genome, Human Genomes Genomic analysis Genotypes Humans long‐read sequence Phenotypes polymerase theta Sequence Analysis
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