[Methylation epigenetic analysis of a pedigree affected with Fragile X syndrome based on Nanopore long-read sequencing].
Nanopore long-read sequencing can simultaneously detect the dynamic mutation and methylation status of the FMR1 gene on the two X chromosomes of females, which has important value for the diagnosis of FXS in different genders.
Authors
- Xuechao Zhao (ORCID: https://orcid.org/0000-0002-6669-5998)
- Panlai Shi (ORCID: https://orcid.org/0000-0001-5826-1340)
- Conghui Wang (ORCID: https://orcid.org/0000-0001-8617-6223)
- Lina Liu (ORCID: https://orcid.org/0000-0003-3241-4016)
- Xiangdong Kong (ORCID: https://orcid.org/0000-0001-5685-8055)
Institutions
- First Affiliated Hospital of Zhengzhou University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-11-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20230910-00123
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article