Facilitating NGS-Based Screening of Genetic Disorders Using -AI-Driven Bioinformatics

Facilitating NGS-Based Screening of Genetic Disorders Using -AI-Driven Bioinformatics

Next-Generation Sequencing (NGS) is used as a diagnostic strategy for identifying pathogenic genetic variants in children and adults. However, the analysis is complex, requiring specialized bioinformaticians, and it can take weeks to finalize one study. This has been a limiting factor for the applic...

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Bibliographic Details
Main Authors: Ricardo Pais, Amanda Carneiro, Yolanda Zendzela, Yosra Sdiri, Tidiana Rodrigues, Maria Guilhermina Moutinho, Tabisam Khan, Markella Mikkelsen
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Medical Sciences Forum
Subjects:
genomics
bioinformatics
rare diseases
artificial intelligence
pre-conception
Online Access:https://www.mdpi.com/2673-9992/22/1/39

Internet

https://www.mdpi.com/2673-9992/22/1/39

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