Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

BACKGROUND: The widespread adoption of exome sequencing has greatly increased the rate of genetic diagnosis for inherited conditions. However, the detection and validation of large deletions remains challenging. While numerous bioinformatics approaches have been developed to detect deletions from wh...

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Detalles Bibliográficos
Autores principales: McClinton, Benjamin, Crinnion, Laura A., McKibbin, Martin, Mukherjee, Rajarshi, Poulter, James A., Smith, Claire E. L., Ali, Manir, Watson, Christopher M., Inglehearn, Chris F., Toomes, Carmel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265035/
https://www.ncbi.nlm.nih.gov/pubmed/36934458
http://dx.doi.org/10.1002/mgg3.2164

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265035/
https://www.ncbi.nlm.nih.gov/pubmed/36934458
http://dx.doi.org/10.1002/mgg3.2164

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