Royal College of Surgeons in Ireland
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Whole exome sequencing studies in epilepsy: a deep analysis of the published literature

journal contribution
posted on 2022-03-04, 15:28 authored by Arif Shukralla, Robert Carton, Katherine BensonKatherine Benson, Hany El-NaggarHany El-Naggar, Austin LaceyAustin Lacey, Gianpiero CavalleriGianpiero Cavalleri, Norman DelantyNorman Delanty
To evaluate the quality of whole-exome sequencing (WES) reporting in the epilepsy literature. We aimed to assess the quality of reporting of WES in epilepsy. We compared studies based on journal type and if outcome reporting biases exist. We used a self-constructed benchmark to quantitatively analyze studies. We included 451 publications. Reporting was heterogeneous with poor reporting of (1) ACMG guideline application 13% and (2) Human Phenotype Ontology (HPO) numbers in 3% of studies, 3) VUS in 19%. Predictors of reporting included journal type and journal impact factor. Date of publication and publication type were not predictors of poor reporting. Pairwise comparisons of genetics versus neurology journals using relative risks yielded significant differences in reporting of ACMG guideline application (RR 1.88, 95% CI 1.04-3.38); HPO numbers (RR 8.62, 95% CI 1.08-63.37) and deposition of findings to ClinVar (RR 2.50, 95% CI 1.03-6.1). Reporting of WES literature is heterogeneous in quality, and poor reporting hinders collaboration and accession of data into large databases like OMIM and OrphaNet. This study highlights reporting bias in this area and, formal structural guidelines like the CONSORT guidelines used in the reporting of clinical trials are needed to address the issue.



This is the peer reviewed version of the following article: Shukralla A, Carton R, Benson KA, El Naggar H, Lacey A, Cavalleri G, Delanty N. Whole exome sequencing studies in epilepsy: A deep analysis of the published literature. Am J Med Genet A. 2022 , which has been published in final form at This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.

Published Citation

Shukralla A, et al,. Whole exome sequencing studies in epilepsy: A deep analysis of the published literature. Am J Med Genet A. 2022

Publication Date

27 January 2022

PubMed ID



  • Beaumont Hospital
  • FutureNeuro Centre
  • School of Pharmacy and Biomolecular Sciences




  • Accepted Version (Postprint)

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