Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort.

Journal of medical genetics - 20 Jun 2024

Martin Bree E, Sands Tristan, Bier Louise, Bergner Amanda, Boehme Amelia K, Lippa Natalie

Abstract excerpt

BACKGROUND: Studies indicate that variants of uncertain significance are more common in non-European populations due to lack of a diversity in population databases. This difference has not been explored in epilepsy, which is increasingly found to be genetic in paediatric populations, and has precision medicine applications. This study examines the differences in the frequency of uncertain next-generation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Epilepsy

Share to Genetic Variation

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Source

Identifiers

PMID: 38453479
DOI: 10.1136/jmg-2023-109450

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort.PMID 38453479Read ↗

Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications.Semantic proximity Read ↗

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenicSemantic proximity Read ↗

Diagnostic Yield of Exome Sequencing in a Diverse Pediatric and Prenatal Population is not Associated with Genetic AncestrySemantic proximity Read ↗

Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical PracticeSemantic proximity Read ↗

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.Semantic proximity Read ↗

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsySemantic proximity Read ↗

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.Semantic proximity Read ↗

Genetic Testing in Pediatric Epilepsy.Semantic proximity Read ↗

Utility of Genome Sequencing After Nondiagnostic Exome Sequencing in Unexplained Pediatric EpilepsySemantic proximity Read ↗

Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of resultsSemantic proximity Read ↗

Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?Semantic proximity Read ↗

Disclosure of Incidental Findings From Next-Generation Sequencing in Pediatric Genomic ResearchSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.