Author

Victor Maricato

Karolinska InstitutetORCID 0000-0002-2310-035XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Research Focus:variant effect prediction· 1

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David Schlesinger· 1 shared Pedro MouraiD· 1 shared

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2026-2026 · peak 1/yr

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David Schlesinger

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1 paper

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BioinformaticsbioRxivPreprintJun 7, 2026

GLOF: A large-scale expert-curated benchmark dataset of gain-of-function and loss-of-function missense variants

Victor Maricato, David Schlesinger, Pedro Moura

The paper introduces GLOF, a large-scale expert-curated dataset of missense variants classified as loss-of-function, gain-of-function, or neutral, to benchmark computational methods for predicting variant functional mechanisms.

DOI 10.64898/2026.06.05.729843

humanGWAS summary statistics