Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

To investigate the diagnostic and clinical utility of a partially automated reanalysis pipeline, forty-eight cases of seriously ill children with suspected genetic disease who did not receive a diagnosis upon initial manual analysis of whole-genome sequencing (WGS) were reanalyzed at least 1 year la...

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Detalles Bibliográficos
Autores principales: James, Kiely N., Clark, Michelle M., Camp, Brandon, Kint, Cyrielle, Schols, Peter, Batalov, Sergey, Briggs, Benjamin, Veeraraghavan, Narayanan, Chowdhury, Shimul, Kingsmore, Stephen F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419288/
https://www.ncbi.nlm.nih.gov/pubmed/32821428
http://dx.doi.org/10.1038/s41525-020-00140-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419288/
https://www.ncbi.nlm.nih.gov/pubmed/32821428
http://dx.doi.org/10.1038/s41525-020-00140-1

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