Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%

Iterative re-analysis of NGS results is not well investigated for published research cohorts of rare diseases. We revisited a cohort of 152 consanguineous families with developmental disorders (NDD) reported five years ago. We re-evaluated all reported variants according to diagnostic classification...

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Detalles Bibliográficos
Autores principales: Bartolomaeus, Tobias, Hentschel, Julia, Jamra, Rami Abou, Popp, Bernt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545662/
https://www.ncbi.nlm.nih.gov/pubmed/37460657
http://dx.doi.org/10.1038/s41431-023-01425-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545662/
https://www.ncbi.nlm.nih.gov/pubmed/37460657
http://dx.doi.org/10.1038/s41431-023-01425-6

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