How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data

Rare diseases, although individually rare, collectively affect approximately 350 million people worldwide. Currently, nearly 6,000 distinct rare disorders with a known molecular basis have been described, yet establishing a specific diagnosis based on the clinical phenotype is challenging. Increasin...

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Detalles Bibliográficos
Autores principales: Schlieben, Lea D., Prokisch, Holger, Yépez, Vicente A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204083/
https://www.ncbi.nlm.nih.gov/pubmed/34141720
http://dx.doi.org/10.3389/fmolb.2021.647277

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8204083/
https://www.ncbi.nlm.nih.gov/pubmed/34141720
http://dx.doi.org/10.3389/fmolb.2021.647277

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