Article

Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissue

2026-04-27

Abstract excerpt

Somatic variants are a prominent cause of epilepsy-associated cortical malformations, but about half of patients undergoing genetic testing have no finding due partly to limitations in variant detection. Most studies have focused on single-nucleotide variants or small indels that are accessible to short-read sequencing technologies, but somatic structural variants are also emerging as important contributors despit...

Topics

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

Identifiers and source

Literature Corpus work: fd95f795-bd69-594a-b8e3-a167ee2c6884
DOI: 10.64898/2026.04.18.26350985

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissueDOI 10.64898/2026.04.18.26350985Read

The genomic landscape across 474 surgically accessible epileptogenic human brain lesionsSemantic proximity Read

Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discoverySemantic proximity Read

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional EpilepsySemantic proximity Read

Identification of Somatic Structural Variants in Solid Tumors By Optical Genome MappingSemantic proximity Read

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaSemantic proximity Read

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odysseySemantic proximity Read

A personalized multi-platform assessment of somatic mosaicism in the human frontal cortexSemantic proximity Read

Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsySemantic proximity Read

Systematic assessment of rare and <i>de novo</i> structural variants in 57 patient-parent trios using optical genome mappingSemantic proximity Read

Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.Semantic proximity Read

Detection of brain somatic variation in epilepsy-associated developmental lesionsSemantic proximity Read

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variantsSemantic proximity Read