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Empirical evaluation of analytic validity of polygenic scores

Declarations. Ethics approval and consent to participate: Research at HSU is governed University of Queensland Human Research Ethics Committee (HREC) approval 2021/HE00172. The 46 samples with both lcWGS and WGS, were recruited and consented under 2021/HE002682 and HREC of the Royal Brisbane and Women’s Hospital HREC/17/QRBW/616. Data were shared from QIMRB under QIMRB HREC approval P3724. Analyses were conducted at the University of Queensland under HREC 2011/HE001173. Our study uses DNA from lymphoblastoid cell lines of Centre d'Etude du Polymorphism Humain (CEPH) samples (north-west European ancestry) from Coriell Institute of Medical Research. These samples originate from participants who provided informed consent for the creation of permanent lymphoblastoid cell lines and for the open scientific use of their DNA in studies of human genetics. The original consent covered broad genetic research. The research conducted in the study was conformed to the principles of the Helsinki Declaration. Consent for publication: Not applicable. Competing interests: EL founded Preciselee, a clinical genetic pathology laboratory. The laboratory provides diagnostic and screening genetic tests, but does not currently offer polygenic risk score testing. The remaining authors declare that they have no competing interests.

Year of publication

2026

Journal

Genome medicine

Author(s)

Lin, T.
Zeng, J.
Gordon, S.D.
Wallace, L.
Ziser, L.
Shah, S.
et al.

Full publication

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