2026-10-13T14:27:37Z https://api.figshare.com/v2/oai

oai:figshare.com:article/33511885 2026-09-15T03:21:01Z category_24622 category_24310 category_24205 item_type_3 month_year_09_2026

Supporting derived data for Evidence-Bounded Molecular Reassessment of Unresolved Inborn Errors of Immunity: A Provenance-Aware Layered Analysis of Three Illustrative Cases Ningkun Xiao (24754642) Mikhail A. Bolkov (5799893) Irina A. Tuzankina (5799896) Grishkina Anastasia Aleksandrovna (24755196) Sulimov Aleksey Valentinovich (24755199) Valery A. Chereshnev (245296) Guojun Liu (24755202) Immunogenetics (incl. genetic immunology) Genomics Translational and applied bioinformatics inborn errors of immunity rare disease genomics molecular reassessment clinical genomics variant interpretation copy-number variation phenotype-genotype concordance Human Phenotype Ontology provenance ACMG/AMP <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. 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> 2026-09-15T03:21:01Z Dataset Dataset 10.6084/m9.figshare.33511885.v1 https://figshare.com/articles/dataset/Supporting_derived_data_for_Evidence-Bounded_Molecular_Reassessment_of_Unresolved_Inborn_Errors_of_Immunity_A_Provenance-Aware_Layered_Analysis_of_Three_Illustrative_Cases/33511885 CC BY 4.0