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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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Detalhes bibliográficos
Publicado no:Front Mol Biosci
Main Authors: Schlieben, Lea D., Prokisch, Holger, Yépez, Vicente A.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8204083/
https://ncbi.nlm.nih.gov/pubmed/34141720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fmolb.2021.647277
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