Long-read technologies identify a hidden inverted duplication in a family with choroideremia.
CHM
RNA hairpin structure
choroideremia
inverted duplication
long-read sequencing
optical genome mapping
strucutural variation
Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
14 Oct 2021
14 Oct 2021
Historique:
received:
22
04
2021
accepted:
01
07
2021
entrez:
20
1
2022
pubmed:
21
1
2022
medline:
21
1
2022
Statut:
epublish
Résumé
The lack of molecular diagnoses in rare genetic diseases can be explained by limitations of current standard genomic technologies. Upcoming long-read techniques have complementary strengths to overcome these limitations, with a particular strength in identifying structural variants. By using optical genome mapping and long-read sequencing, we aimed to identify the pathogenic variant in a large family with X-linked choroideremia. In this family, aberrant splicing of exon 12 of the choroideremia gene
Identifiants
pubmed: 35047838
doi: 10.1016/j.xhgg.2021.100046
pii: S2666-2477(21)00027-0
pmc: PMC8756506
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100046Informations de copyright
© 2021 The Author(s).
Déclaration de conflit d'intérêts
The authors declare no competing interests.
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