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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