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Author

Vincenza Colonna

2 papers indexed here

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Open access Sep 2026

Lifelong Genetic Inhibition of PCSK9 and Hepatic Safety

This genetic association study investigates whether the full spectrum of rare PCSK9 loss-of-function variants is associated with incident liver-related outcomes, given the development of therapies targeting proprotein convertase subtilisin/kexin type 9 (PCSK9).

A. Di Costanzo, Ilaria Pirona, L. D'Erasmo et al. · 1 citation
Open access Jul 2026

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation

A pangenome reference overcomes the inherent limitation of any individual reference genome by integrating the variation present in a population. We present the Human Pangenome Reference Consortium’s (HPRC) Release 2 (HPRC2), an openly available, second phase pangenome that is an approximately fivefold expansion in geno...

Julian K. Lucas, Prajna Hebbar, Wen-Wei Liao et al. · 1 citation

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