Rare disease genomics and precision medicine
Juhyeon Hong, D. Lee, Ayoung Hwang, T. Kim, Hong‐Yeoul Ryu, Jungmin Choi
Abstract
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.
Topics & Concepts
Big dataPrecision medicineData sharingGenomicsDiseaseData scienceGenomic medicineAnalyticsRare diseaseComputer scienceMedicineComputational biologyAlternative medicineBiologyPathologyData miningGeneticsGenomeGeneGenomics and Rare DiseasesCancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities