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Article

Mapping functional non-coding variation in individual human genomes through haplotyping, multiomics, and deep learning.

Nature communications - 29 Apr 2026

Magnitov Mikhail D, van der Weide Robin H, Witvliet Aster F, Hernández-Quiles Miguel, Martinović Moreno, Teunissen Hans, Braccioli Luca, Vermeulen Michiel, de Wit Elzo

Abstract excerpt

Most genetic variants in the human genome reside in non-coding regions, where they can perturb regulatory element activity to influence gene expression, thereby contributing to various phenotypes and diseases. However, identifying functionally relevant non-coding genetic variation remains challenging. Here we integrate personal genomics, allele-specific gene regulation, and deep learning predictions to map the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42056104
DOI: 10.1038/s41467-026-72392-x
PMCID: PMC13333882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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