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Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

The authors present an assessment of the utility of “third-generation” nanopore sequencing for the confirmation and characterization of mobile element insertions. and discuss how implementation of long-read nanopore sequencing can offer benefits over existing molecular approaches.

Christopher M. Watson
Laura A. Crinnion
David T. Bonthron
Research28 Sept 2020
Laboratory Investigation

Volume: 101, P: 442-449
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Genome-wide association meta-analyses identify 26 risk loci for epilepsy, including 19 loci specific to genetic generalized epilepsy. Prioritized candidate genes implicate synaptic processes and overlap with targets of antiseizure medications.

Remi Stevelink
Ciarán Campbell
Quratulain Zulfiqar Ali
ResearchOpen Access31 Aug 2023
Nature Genetics

Volume: 55, P: 1471-1482
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Here, the authors perform a meta-analysis in 26,699 people with seizures and 492,324 controls to identify 25 genome-wide significant copy-number variants. The discovered loci point to known disease genes and associations with clinical annotations.

Ludovica Montanucci
David Lewis-Smith
Dennis Lal
ResearchOpen Access20 Jul 2023
Nature Communications

Volume: 14, P: 1-19

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Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

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