A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

The human genome contains repetitive regions, such as segmental duplications, known to be prone to copy number variation. Segmental duplications are highly identical and homologous sequences, posing a specific challenge for most mutation detection methods. The giant nebulin gene is expressed in skel...

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Detalles Bibliográficos
Autores principales: Sagath, Lydia, Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109913/
https://www.ncbi.nlm.nih.gov/pubmed/35576196
http://dx.doi.org/10.1371/journal.pone.0267793

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109913/
https://www.ncbi.nlm.nih.gov/pubmed/35576196
http://dx.doi.org/10.1371/journal.pone.0267793

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