Article

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

2026-06-07

Abstract excerpt

Distinguishing loss-of-function (LOF) from gain-of-function (GOF) effects of missense variants is fundamental to understanding disease mechanisms and guiding therapeutic strategy, yet no large-scale, expert-curated benchmark has been publicly available for this task. Here we present GLOF (Gain and Loss Of Function), a dataset of 112,399 missense variants across 2,809 human genes, each classified as LOF, GOF, or ne...

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Literature Corpus work: a76602cb-9737-531d-b545-6b9c3c643b71
DOI: 10.64898/2026.06.05.729843

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