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Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations

Genetic diagnosis of patients with neurodevelopmental disorders is imperative and a standard clinical practice. Considering the continuous accumulation of data on disease-causing variants, reanalysis of previously established sequencing data is important. Periodic reanalysis of variants with uncerta...

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Detalles Bibliográficos
Autores principales: Won, Dongju, Kim, Se Hee, Kim, Borahm, Lee, Seung-Tae, Kang, Hoon-Chul, Choi, Jong Rak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338758/
https://www.ncbi.nlm.nih.gov/pubmed/32695065
http://dx.doi.org/10.3389/fneur.2020.00612