Artificial intelligence and database for NGS-based diagnosis in rare disease

Artificial intelligence and database for NGS-based diagnosis in rare disease

Rare diseases (RDs) are rare complex genetic diseases affecting a conservative estimate of 300 million people worldwide. Recent Next-Generation Sequencing (NGS) studies are unraveling the underlying genetic heterogeneity of this group of diseases. NGS-based methods used in RDs studies have improved...

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Bibliographic Details
Main Authors: Yee Wen Choon, Yee Fan Choon, Nurul Athirah Nasarudin, Fatma Al Jasmi, Muhamad Akmal Remli, Mohammed Hassan Alkayali, Mohd Saberi Mohamad
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
rare disease
diagnosis
next-generation sequencing
artificial intelligence
machine learning
data science
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1258083/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1258083/full

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