Article

Massively parallel characterization and predictive modelling of neuronal regulatory variation

2026-07-17

Abstract excerpt

Disease-associated variants reside frequently in noncoding cis-regulatory elements (CREs), yet their functional consequences remain poorly understood. We performed a large-scale lentiMPRA in human excitatory neurons, quantifying the impact of >46,000 naturally occurring variants across >27,000 candidate CREs near 524 disease-associated genes. These data improved regulatory variant effect predictions beyond state-o...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e8d26ca9-6bd1-55f8-b831-d07be0378d85
DOI: 10.64898/2026.07.16.738760

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Massively parallel characterization and predictive modelling of neuronal regulatory variationDOI 10.64898/2026.07.16.738760Read

Genetic regulation of cell type-specific chromatin accessibility shapes brain disease etiology.Semantic proximity Read

Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortexSemantic proximity Read

BRAIN-MAGNET: A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elementsSemantic proximity Read

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genesSemantic proximity Read

Epigenomic Profiling and Single-Nucleus-RNA-Seq Reveal <i>Cis</i> -Regulatory Elements in Human Retina, Macula and RPE and Non-Coding Genetic VariationSemantic proximity Read

Reference Regulatory Element-Guided Gene Expression Analysis for Mechanistic Inference of Gene Regulatory NetworksSemantic proximity Read

Functional characterization of gene regulatory elements and neuropsychiatric disease-associated risk loci in iPSCs and iPSC-derived neuronsSemantic proximity Read

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disordersSemantic proximity Read

Modeling <i>cis</i> -regulatory variation in human brain enhancers across a large Parkinson’s Disease cohortSemantic proximity Read

Multi-omics Differential Inference for Functional Interpretation (MoDIFI): A Statistical Framework to Prioritize Cell Lines for Neurodevelopmental VariantsSemantic proximity Read

Genetic regulation of cell-type specific chromatin accessibility shapes the etiology of brain diseasesSemantic proximity Read

Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants.Semantic proximity Read