Reporting of whole exome sequencing studies in epilepsy: An in-depth analysis of literature
Abstract number :
463
Submission category :
2. Translational Research / 2E. Other
Year :
2020
Submission ID :
2422805
Source :
www.aesnet.org
Presentation date :
12/6/2020 5:16:48 PM
Published date :
Nov 21, 2020, 02:24 AM
Authors :
Arif Shukralla, Beaumont Hospital; Robert Carton - RCSI; Austin Lacey - RCSI; Hany El Naggar - RCSI; Gianpiero Cavalleri - RCSI; Norman Delanty - Beaumont Hospital;
Rationale:
Whole exome sequencing is a new rapid and cost effective tool for the diagnosis of the epilepsies. Our primary aim was to assess the quality of reporting of WES. Secondary aims; to compare the quality of studies based on journal type if recent ACMG guidelines have made influenced reporting quality; if any outcome reporting biases exist.
Method:
We analysed studies of whole exome sequencing in epilepsy. We used a self-constructed benchmark to quantitatively analyse studies, explore retrospectively if reporting trends have changed.
Results:
A total of 307 studies was included. Reporting of data was heterogenous with poor reporting of diagnostic yield in 6% of studies, incidental findings in 11%, variants of undetermined significance in 19%. Predictors of poor reporting included: Journal type, proband status and case reports. Pairwise comparisons of genetics journals versus other journals using relative risks yielded significant differences in reporting of consanguinity status (RR 1.27 CI 1.04-1.55); variant filtering (RR 1.95 CI 1.41-2.7) and determination of pathogenicity (RR 1.35 CI 1.17-1.56).
Conclusion:
Reporting of WES data in the medical literature is heterogenous, making comparisons across studies difficult. Formal structured guidelines similar to the CONSORT guidelines are needed to address this issue further.
Funding:
:This abstract was funded by FutureNeuro a grant provided by the Science Foundation of Ireland
Translational Research