Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

BACKGROUND: Currently available structural variant (SV) detection methods do not span the complete spectrum of disease‐causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically‐relevant SVs in a 4‐year...

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Detalles Bibliográficos
Autores principales: Cope, Heidi, Barseghyan, Hayk, Bhattacharya, Surajit, Fu, Yulong, Hoppman, Nicole, Marcou, Cherisse, Walley, Nicole, Rehder, Catherine, Deak, Kristen, Alkelai, Anna, Vilain, Eric, Shashi, Vandana, Phillips, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372083/
https://www.ncbi.nlm.nih.gov/pubmed/33955715
http://dx.doi.org/10.1002/mgg3.1665

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