Rare disease genomics and precision medicine.

Genomics Inform

Department of Biomedical Sciences, Korea University College of Medicine, Seoul, 02841, Republic of Korea.

Published: December 2024

Rare diseases, though individually uncommon, collectively affect millions worldwide. Genomic technologies and big data analytics have revolutionized diagnosing and understanding these conditions. This review explores the role of genomics in rare disease research, the impact of large consortium initiatives, advancements in extensive data analysis, the integration of artificial intelligence (AI) and machine learning (ML), and the therapeutic implications in precision medicine. We also discuss the challenges of data sharing and privacy concerns, emphasizing the need for collaborative efforts and secure data practices to advance rare disease research.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11616305PMC
http://dx.doi.org/10.1186/s44342-024-00032-1DOI Listing

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