Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies

BACKGROUND: The majority of genetic epilepsies remain unsolved in terms of specific genotype. Phenotype‐based genomic analyses have shown potential to strengthen genomic analysis in various ways, including improving analytical efficacy. METHODS: We have tested a standardised phenotyping method terme...

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Detalles Bibliográficos
Autores principales: Henry, Olivia J., Stödberg, Tommy, Båtelson, Sofia, Rasi, Chiara, Stranneheim, Henrik, Wedell, Anna
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/PMC10337286/
https://www.ncbi.nlm.nih.gov/pubmed/36967109
http://dx.doi.org/10.1002/mgg3.2167

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