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Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....

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Related Experiment Video

Updated: Dec 4, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters.

Eva-Katharina Willimsky¹, Anna Munzig², Karin Mayer²

¹Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics Department of Pediatrics, Ludwig-Maximilians University of Munich, Dr. von Hauner Children's Hospital, Munich, Germany.

Neuropediatrics

|October 21, 2020

Summary

Large customized epilepsy gene panels significantly increase diagnostic yield in pediatric epilepsy patients without developmental and epileptic encephalopathy (non-DEE). For DEE cases, smaller panels may suffice, while larger panels increase unclear findings.

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Rare Event Detection Using Error-corrected DNA and RNA Sequencing

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Published on: August 3, 2018

Area of Science:

Genetics
Neurology
Molecular Biology

Background:

Next-generation sequencing (NGS) with customized gene panels is crucial for diagnosing monogenic epilepsy syndromes.
The size of customized epilepsy gene panels can vary considerably, impacting diagnostic efficiency.

Purpose of the Study:

To compare the diagnostic yield of small (<25 kb) versus large (>25 kb) customized epilepsy gene panels.
To analyze diagnostic yield differences based on epilepsy severity, specifically developmental and epileptic encephalopathy (DEE) versus non-DEE.

Main Methods:

Retrospective cohort study of 190 pediatric patients (≤18 years) with epilepsy of unknown etiology.
NGS using customized gene panels was performed, comparing small and large panels for variant classification (benign, likely benign, pathogenic, likely pathogenic, unclear significance).

Main Results:

Large panels showed a significantly higher diagnostic yield (29%) compared to small panels (13%) (p=0.0198).
In non-DEE patients, large panels yielded significantly more diagnoses (35%) than small panels (13%) (p=0.0378).
This significant increase in diagnostic yield for large panels was not observed in DEE patients.

Conclusions:

Large customized epilepsy panels (>25 kb) offer superior diagnostic yield for pediatric epilepsy patients, particularly those without DEE.
For DEE patients, smaller panels (≤10 genes) may be adequate.
Increased panel size correlates with a higher proportion of variants of unclear significance.