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Article History

Received: 3 March 2025

Accepted: 29 December 2025

First Online: 12 January 2026

Declarations

:

: This study used both publicly available sequencing datasets and in-house whole-genome sequencing data from patients with immunological disorders. Use of the in-house samples was approved by the Institutional Review Board of the University of Hong Kong/Hospital Authority Hong Kong West Cluster (HKU/HA HKW IRB) under the protocol “Database and Patient Registry on Immunological Disorders” (IRB reference UW 08–301). Written informed consent for participation, and for storage and research use of clinical and genetic data, was obtained from all participants or from their parents/legal guardians in the case of minors, in accordance with this approved protocol. All procedures involving human participants were conducted in accordance with the ethical standards of the HKU/HA HKW IRB, the Hospital Authority, and the University of Hong Kong, and with the principles of the Declaration of Helsinki and its later amendments. Analyses of public benchmark datasets (e.g. Genome in a Bottle and related resources) were performed on fully de-identified data available from open repositories and did not require additional institutional ethics approval.

: For the in-house samples, written informed consent for publication of anonymised research data, including genomic data, was obtained from all participants or from their parents or legal guardians in the case of minors, as required by HKU/HA HKW IRB protocol UW 08–301. This manuscript does not contain any individual person’s identifiable data (such as photographs, detailed pedigrees, or case descriptions that could enable re-identification). For the public benchmark datasets, consent for publication was obtained by the original data generators, and only de-identified data were used in this study.

: The authors declare no competing interests.