Case Report: Decrypting an interchromosomal insertion associated with Marfan’s syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Optical genome mapping (OGM), which allows analysis of ultra-high molecular weight (UHMW) DNA molecules, represents a response to the restriction created by short-read next-generation-sequencing, even in cases where the causative variant is a neutral copy-number-variant insensitive to quantitative i...

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Detalles Bibliográficos
Autores principales: Bonaglia, Maria Clara, Salvo, Eliana, Sironi, Manuela, Bertuzzo, Sara, Errichiello, Edoardo, Mattina, Teresa, Zuffardi, Orsetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10551147/
https://www.ncbi.nlm.nih.gov/pubmed/37811140
http://dx.doi.org/10.3389/fgene.2023.1244983

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10551147/
https://www.ncbi.nlm.nih.gov/pubmed/37811140
http://dx.doi.org/10.3389/fgene.2023.1244983

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