Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4

Chromothripsis is a type of chaotic complex genomic rearrangement caused by a single event of chromosomal shattering and repair processes. Chromothripsis is known to cause rare congenital diseases when it occurs in germline cells, however, current genome analysis technologies have difficulty in dete...

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Detalles Bibliográficos
Autores principales: Lei, Ming, Liang, Desheng, Yang, Yifeng, Mitsuhashi, Satomi, Katoh, Kazutaka, Miyake, Noriko, Frith, Martin C., Wu, Lingqian, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324355/
https://www.ncbi.nlm.nih.gov/pubmed/32296131
http://dx.doi.org/10.1038/s10038-020-0754-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7324355/
https://www.ncbi.nlm.nih.gov/pubmed/32296131
http://dx.doi.org/10.1038/s10038-020-0754-6

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