New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches

Rare diseases impact the lives of 300 million people in the world. Rapid advances in bioinformatics and genomic technologies have enabled the discovery of causes of 20–30% of rare diseases. However, most rare diseases have remained as unsolved enigmas to date. Newer tools and availability of high th...

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Detalles Bibliográficos
Autores principales: Setty, Samarth Thonta, Scott-Boyer, Marie-Pier, Cuppens, Tania, Droit, Arnaud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224427/
https://www.ncbi.nlm.nih.gov/pubmed/35743235
http://dx.doi.org/10.3390/ijms23126792

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9224427/
https://www.ncbi.nlm.nih.gov/pubmed/35743235
http://dx.doi.org/10.3390/ijms23126792

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