Long‐read sequence analysis for clustered genomic copy number aberrations revealed architectures of intricately intertwined rearrangements-Reference-Cited by-同舟云学术

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

Published:2022-10-25 Issue:1 Volume:191 Page:112-119
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Tamura Takeaki¹²³,Yamamoto Shimojima Keiko³⁴,Okamoto Nobuhiko⁵,Yagasaki Hiroshi¹,Morioka Ichiro¹,Kanno Hitoshi³⁴,Minakuchi Yohei⁶,Toyoda Atsushi⁶,Yamamoto Toshiyuki²⁴

Affiliation:

1. Department of Pediatrics and Child Health Nihon University School of Medicine Tokyo Japan

2. Division of Gene Medicine, Graduate School of Medical Science Tokyo Women's Medical University Tokyo Japan

3. Department of Transfusion Medicine and Cell Processing Tokyo Women's Medical University Tokyo Japan

4. Institute of Medical Genetics, Tokyo Women's Medical University Tokyo Japan

5. Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Japan

6. Department of Genomics and Evolutionary Biology National Institute of Genetics Mishima Shizuoka Japan

Funder

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62997

Reference31 articles.

1. Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

2. Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

3. Mechanisms of structural chromosomal rearrangement formation

4. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

5. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

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