The quest for a complete understanding of the human genome
Abstract An integrated roadmap toward clinical interpretation of the complete human genome is in dire need. We discuss approaches to meet this goal, including integrating data from diverse, well-phenotyped populations with enhanced long-read genome assemblies, variant calling as well as improved pre...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | Genome Medicine |
| Online Access: | https://doi.org/10.1186/s13073-025-01523-8 |
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| _version_ | 1849342392515166208 |
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| author | Ahmad Abou Tayoun Hamad Ali Younes Mokrab |
| author_facet | Ahmad Abou Tayoun Hamad Ali Younes Mokrab |
| author_sort | Ahmad Abou Tayoun |
| collection | DOAJ |
| description | Abstract An integrated roadmap toward clinical interpretation of the complete human genome is in dire need. We discuss approaches to meet this goal, including integrating data from diverse, well-phenotyped populations with enhanced long-read genome assemblies, variant calling as well as improved predictive models and scalable functional assays. |
| format | Article |
| id | doaj-art-5b6e0387aa7c4ccab8cb8bcdd62b166e |
| institution | Kabale University |
| issn | 1756-994X |
| language | English |
| publishDate | 2025-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Genome Medicine |
| spelling | doaj-art-5b6e0387aa7c4ccab8cb8bcdd62b166e2025-08-20T03:43:25ZengBMCGenome Medicine1756-994X2025-08-011711410.1186/s13073-025-01523-8The quest for a complete understanding of the human genomeAhmad Abou Tayoun0Hamad Ali1Younes Mokrab2Dubai Health Genomic Medicine Center, Dubai HealthDepartment of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Health Sciences Center, Kuwait UniversityResearch Branch, Sidra MedicineAbstract An integrated roadmap toward clinical interpretation of the complete human genome is in dire need. We discuss approaches to meet this goal, including integrating data from diverse, well-phenotyped populations with enhanced long-read genome assemblies, variant calling as well as improved predictive models and scalable functional assays.https://doi.org/10.1186/s13073-025-01523-8 |
| spellingShingle | Ahmad Abou Tayoun Hamad Ali Younes Mokrab The quest for a complete understanding of the human genome Genome Medicine |
| title | The quest for a complete understanding of the human genome |
| title_full | The quest for a complete understanding of the human genome |
| title_fullStr | The quest for a complete understanding of the human genome |
| title_full_unstemmed | The quest for a complete understanding of the human genome |
| title_short | The quest for a complete understanding of the human genome |
| title_sort | quest for a complete understanding of the human genome |
| url | https://doi.org/10.1186/s13073-025-01523-8 |
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