ArticleHuman genome variation2025
DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.
Article in Human genome variation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Authors and funding
6 authors.
Funding
Abstract
An episignature is a genome-wide DNA methylation pattern that is specific to each syndrome or etiologic gene. Episignature analysis helps to diagnose patients with variants of uncertain significance (VUS), but this requires positive methylation datasets from patients with a definitive diagnosis. Here we provide methylation datasets of Rubinstein-Taybi syndrome at the individual patient level, which have not been published before. This dataset increases the likelihood of determining the function of the VUS.
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Registered trials
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