Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach

De novo mutations (DNMs) play an important role in severe genetic disorders that reduce fitness. To better understand their role in disease, it is important to determine the parent‐of‐origin and timing of mutational events that give rise to these mutations, especially in sex‐specific developmental d...

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Detalles Bibliográficos
Autores principales: Holt, Giles S., Batty, Lois E., Alobaidi, Bilal K. S., Smith, Hannah E., Oud, Manon S., Ramos, Liliana, Xavier, Miguel J., Veltman, Joris A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Methods
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826063/
https://www.ncbi.nlm.nih.gov/pubmed/36047340
http://dx.doi.org/10.1002/humu.24450

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