Table · dataset · 2026
Supporting derived data for Evidence-Bounded Molecular Reassessment of Unresolved Inborn Errors of Immunity: A Provenance-Aware Layered Analysis of Three Illustrative Cases
Listed in figshare
Description
<p dir="ltr">This dataset contains the non-sensitive, publication-facing derived data supporting the aggregate analyses reported in the manuscript “Evidence-Bounded Molecular Reassessment of Unresolved Inborn Errors of Immunity: A Provenance-Aware Layered Analysis of Three Illustrative Cases.”</p><p dir="ltr">The deposit includes evidence-layer definitions, aggregate case-level endpoint summaries, participant-decoupled molecular reassessment summaries, prespecified sensitivity-analysis summaries, cross-case evidence-boundary summaries, resource-version metadata, and a data dictionary.
The deposited data were generated from a retrospective, provenance-aware reassessment of three unresolved inborn errors of immunity (IEI) index cases and are provided solely at the level required to reproduce and audit the aggregate analytical conclusions reported in the manuscript.</p><p dir="ltr">To minimize participant re-identification risk, this public deposit intentionally excludes participant-level clinical records, source-traceable phenotype/HPO tables, exact clinical or specimen dates, source locators, original molecular diagnostic reports, family-linked genotype and segregation data, pedigree crosswalks, and raw, aligned, or participant-level variant genomic files.
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No third-party database content is redistributed. No new sequencing, transcriptomic, proteomic, or structural dataset was generated in this retrospective reassessment.</p><p dir="ltr">Release package: Human_Genomics_Data_Release_v1.0. File definitions and reuse information are provided in the accompanying README and data dictionary.</p>
Links
Where it is published
- DOI doi.org/10.6084/m9.figshare.33511885.v1 ↗
DOI / persistent id · from figshare com
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from figshare com
Topics
- From keywords
- Astronomy & Astrophysics · Chemistry · Computer Science & AI · Earth & Environmental Science · Economics & Finance · Engineering · Genomics · Humanities · Life Sciences · Medicine & Health · Ocean & Atmospheric Science · Social Science · Translational and applied bioinformatics
- Inferred from text
- Sequencing 75%
Provenance · 1 source records, 19 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| figshare | oai:figshare.com:article/33511885 | 11 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].anzsrc:field:310208 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Translational and applied bioinformatics'] |
| concepts[field].anzsrc:field:310509 | mapping · figshare com | vocabulary-mapper@1.0.0 | keywords['Genomics'] |
| concepts[field].local:field:astronomy | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:humanities | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:social-science | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[modality].local:modality:sequencing | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/description |
| license | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/rights |
| publication_date | source · figshare com | connector:figshare_com@1.0.0 | |
| title | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/title |