Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis-Reference-Cited by-同舟云学术

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Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis

Published:2024-08-26 Issue:1 Volume:14 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Watanabe Daisuke,Okamoto Nobuhiko,Kobayashi Yuichi,Suzuki Hisato,Kato Mitsuhiro,Saitoh Shinji,Kanemura Yonehiro,Takenouchi Toshiki,Yamada Mamiko,Nakato Daisuke,Sato Masayuki,Tsunoda Tatsuhiko,Kosaki Kenjiro,Miya Fuyuki

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41598-024-70831-7.pdf

Reference31 articles.

1. Cockayne, E. A. Dwarfism with retinal atrophy and deafness. Arch. Dis. Child 11, 1–8. https://doi.org/10.1136/adc.11.61.1 (1936).

2. Laugel, V. et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum. Mutat. 31, 113–126. https://doi.org/10.1002/humu.21154 (2010).

3. Nance, M. A. & Berry, S. A. Cockayne syndrome: Review of 140 cases. Am. J. Med. Genet. 42, 68–84. https://doi.org/10.1002/ajmg.1320420115 (1992).

4. de Boer, J. & Hoeijmakers, J. H. Nucleotide excision repair and human syndromes. Carcinogenesis 21, 453–460. https://doi.org/10.1093/carcin/21.3.453 (2000).

5. Duan, J., Zhang, J. G., Deng, H. W. & Wang, Y. P. CNV-TV: A robust method to discover copy number variation from short sequencing reads. BMC Bioinform. 14, 150. https://doi.org/10.1186/1471-2105-14-150 (2013).

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