遇见数据集

PrimeReplace Atlas: a transcript-unit architecture database for disease-associated large-fragment genome writing

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Zenodo2026-05-22 更新2026-05-26 收录
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PrimeReplace Atlas is a pre-implementation transcript-unit target-architecture database for the large-fragment genome-writing era. It maps disease-associated ClinVar pathogenic/likely pathogenic records onto MANE/GENCODE transcript units and reports record support, transcript-unit type, record-level coverage, payload/context burden, architecture class, and condition-associated record facets. The current release includes 5,738 all-mapped genes, 437,301 transcript-unit opportunity rows, 3,459 low-record-burden interpretation-limited genes, 2,279 architecture-interpretable genes, 3,389 high-support condition-associated record groups, 1,278 high-support condition groups with recovered unit coverage, and 160,125 condition-unit coverage rows. Public browser:https://best916116-crypto.github.io/PrimeReplace-Atlas/ Source repository:https://github.com/best916116-crypto/PrimeReplace-Atlas Scope:The resource is restricted to record-level target architecture and does not select an editing modality, estimate patient-level prevalence, or model editing outcomes. ClinVar, MANE, GENCODE and other third-party public resources remain subject to their original provider terms. Generated atlas tables, browser-downloadable data files, figures, and release materials are licensed under CC BY 4.0; code and static browser source are licensed under MIT as specified in the GitHub repository.

提供机构:
Zenodo
创建时间:
2026-05-14
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