Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

The widespread use of genome-wide diagnostic screening methods has greatly increased the frequency with which incidental (but possibly pathogenic) copy number changes affecting single genes are detected. These findings require validation to allow appropriate clinical management. Deletion variants ca...

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Detalles Bibliográficos
Autores principales: Watson, Christopher M., Crinnion, Laura A., Hewitt, Sarah, Bates, Jennifer, Robinson, Rachel, Carr, Ian M., Sheridan, Eamonn, Adlard, Julian, Bonthron, David T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923135/
https://www.ncbi.nlm.nih.gov/pubmed/31273287
http://dx.doi.org/10.1038/s41374-019-0283-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923135/
https://www.ncbi.nlm.nih.gov/pubmed/31273287
http://dx.doi.org/10.1038/s41374-019-0283-0

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