Long-read trio sequencing of individuals with unsolved intellectual disability

Long-read sequencing (LRS) has the potential to comprehensively identify all medically relevant genome variation, including variation commonly missed by short-read sequencing (SRS) approaches. To determine this potential, we performed LRS around 15×–40× genome coverage using the Pacific Biosciences...

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Detalles Bibliográficos
Autores principales: Pauper, Marc, Kucuk, Erdi, Wenger, Aaron M., Chakraborty, Shreyasee, Baybayan, Primo, Kwint, Michael, van der Sanden, Bart, Nelen, Marcel R., Derks, Ronny, Brunner, Han G., Hoischen, Alexander, Vissers, Lisenka E. L. M., Gilissen, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115091/
https://www.ncbi.nlm.nih.gov/pubmed/33257779
http://dx.doi.org/10.1038/s41431-020-00770-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115091/
https://www.ncbi.nlm.nih.gov/pubmed/33257779
http://dx.doi.org/10.1038/s41431-020-00770-0

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