ArticlePLoS genetics2018
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 4 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 4 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- A Systematic Review on the Genetic Contribution to Tinnitus.Journal of the Association for Research in Otolaryngology : JARO · 2024Pooled it
- Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.Genome medicine · 2021Pooled it
- Genetic polymorphisms in SCN2A are not associated with epilepsy risk and AEDs response: evidence from a meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case-control study and meta-analysis.Bioscience reports · 2018Pooled it
- Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.Human genetics · 2026Article
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- Genome-wide rare copy number variations potentially associated with drug resistance in epilepsy.Scientific reports · 2026Article
- Article
- Diversity and consequences of structural variation in the human genome.Nature reviews. Genetics · 2025Review
- PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants.Nature communications · 2023Article
- Article
- Unraveling the role of non-coding rare variants in epilepsy.PloS one · 2023Article
- Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus.NPJ genomic medicine · 2022Article
- Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.Neuropathology and applied neurobiology · 2022Review
- Beyond Seizure Control: Treating Comorbidities in Epilepsy via Targeting of the P2X7 Receptor.International journal of molecular sciences · 2022Review
- Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7.Frontiers in genetics · 2022Article
- The non-coding genome in genetic brain disorders: new targets for therapy?Essays in biochemistry · 2021Review
- Interpreting the impact of noncoding structural variation in neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Review
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.Brain : a journal of neurology · 2020Article
- From Genetic Testing to Precision Medicine in Epilepsy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Review
Corrections and comments
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Authors and funding
16 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epilepsy will affect nearly 3% of people at some point during their lifetime. Previous copy number variants (CNVs) studies of epilepsy have used array-based technology and were restricted to the detection of large or exonic events. In contrast, whole-genome sequencing (WGS) has the potential to more comprehensively profile CNVs but existing analytic methods suffer from limited accuracy. We show that this is in part due to the non-uniformity of read coverage, even after intra-sample normalization. To improve on this, we developed PopSV, an algorithm that uses multiple samples to control for technical variation and enables the robust detection of CNVs. Using WGS and PopSV, we performed a comprehensive characterization of CNVs in 198 individuals affected with epilepsy and 301 controls. For both large and small variants, we found an enrichment of rare exonic events in epilepsy patients, especially in genes with predicted loss-of-function intolerance. Notably, this genome-wide survey also revealed an enrichment of rare non-coding CNVs near previously known epilepsy genes. This enrichment was strongest for non-coding CNVs located within 100 Kbp of an epilepsy gene and in regions associated with changes in the gene expression, such as expression QTLs or DNase I hypersensitive sites. Finally, we report on 21 potentially damaging events that could be associated with known or new candidate epilepsy genes. Our results suggest that comprehensive sequence-based profiling of CNVs could help explain a larger fraction of epilepsy cases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.