Rare disease genomics and precision medicine
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 consort...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BioMed Central
2024-12-01
|
| Series: | Genomics & Informatics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s44342-024-00032-1 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850216411780087808 |
|---|---|
| author | Juhyeon Hong Dajun Lee Ayoung Hwang Taekeun Kim Hong-Yeoul Ryu Jungmin Choi |
| author_facet | Juhyeon Hong Dajun Lee Ayoung Hwang Taekeun Kim Hong-Yeoul Ryu Jungmin Choi |
| author_sort | Juhyeon Hong |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3d76be6d3f324900b4f4f982787b3ffd |
| institution | OA Journals |
| issn | 2234-0742 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-3d76be6d3f324900b4f4f982787b3ffd2025-08-20T02:08:19ZengBioMed CentralGenomics & Informatics2234-07422024-12-0122111110.1186/s44342-024-00032-1Rare disease genomics and precision medicineJuhyeon Hong0Dajun Lee1Ayoung Hwang2Taekeun Kim3Hong-Yeoul Ryu4Jungmin Choi5Department of Biomedical Sciences, Korea University College of MedicineDepartment of Biomedical Sciences, Korea University College of MedicineDepartment of Biomedical Sciences, Korea University College of MedicineDepartment of Biomedical Sciences, Korea University College of MedicineSchool of Life Sciences, BK21 FOUR KNU Creative BioResearch Group, College of Natural Sciences, Kyungpook National UniversityDepartment of Biomedical Sciences, Korea University College of MedicineAbstract 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.https://doi.org/10.1186/s44342-024-00032-1Rare disease genomicsBig data analyticsPrecision medicine |
| spellingShingle | Juhyeon Hong Dajun Lee Ayoung Hwang Taekeun Kim Hong-Yeoul Ryu Jungmin Choi Rare disease genomics and precision medicine Genomics & Informatics Rare disease genomics Big data analytics Precision medicine |
| title | Rare disease genomics and precision medicine |
| title_full | Rare disease genomics and precision medicine |
| title_fullStr | Rare disease genomics and precision medicine |
| title_full_unstemmed | Rare disease genomics and precision medicine |
| title_short | Rare disease genomics and precision medicine |
| title_sort | rare disease genomics and precision medicine |
| topic | Rare disease genomics Big data analytics Precision medicine |
| url | https://doi.org/10.1186/s44342-024-00032-1 |
| work_keys_str_mv | AT juhyeonhong rarediseasegenomicsandprecisionmedicine AT dajunlee rarediseasegenomicsandprecisionmedicine AT ayounghwang rarediseasegenomicsandprecisionmedicine AT taekeunkim rarediseasegenomicsandprecisionmedicine AT hongyeoulryu rarediseasegenomicsandprecisionmedicine AT jungminchoi rarediseasegenomicsandprecisionmedicine |