Srivastava, Siddharth
Love-Nichols, Jamie A.
Dies, Kira A.
Ledbetter, David H.
Martin, Christa L.
Chung, Wendy K.
Firth, Helen V.
Frazier, Thomas
Hansen, Robin L.
Prock, Lisa
Brunner, Han
Hoang, Ny
Scherer, Stephen W.
Sahin, Mustafa
Miller, David T.
Funding for this research was provided by:
Wade Family Foundation (N/A)
Article History
Received: 20 February 2019
Accepted: 15 May 2019
First Online: 11 June 2019
Change Date: 29 July 2020
Change Type: Update
Change Details: In our meta-analysis, we utilized incorrect numbers of individuals for one publication (Retterer et al., 2016) due to the fact the numbers for ASD and ID groups were not independent representations. We have updated our analysis using corrected numbers based on correspondence with the first author of this paper (diagnostic yield for NDD = 543/1736 as opposed to 570/2063). The updated analysis leads to the same (rounded) weighted diagnostic yield and confidence intervals (CI) as the initial publication (36% [30%–43%]). The updated analysis results in the following updated values in Figure 2 -- Retterer study values: N positive = 543, N total = 1736, study weight = 5.3% and meta-analysis statistics: I2 = 80%, t2 = 0.2835, <i>p</i> < 0.01. The study is also included in two subanalyses reported in the Results. The isolated NDD subcategory (<i>n</i> = 21 articles), updated analysis leads to same (rounded) weighted diagnostic yield and confidence intervals as published (31% [25%–38%]). For the sub-analysis of mix of ID and/or ASD, the initial yield was 37% (CI: 29%–46%). Following updated analysis, the yield of this subset is 39% (CI: 29%–50%).
Change Date: 29 July 2020
Change Type: Correction
Change Details: A Correction to this paper has been published:
Change Details: https://doi.org/10.1038/s41436-020-0913-3
Disclosure
: All authors completed the International Committee of Medical Journal Editors conflict of interest disclosure forms, which were reviewed by the senior authors. H.V.F. reports personal fees from UpToDate, outside the submitted work. T.F. has received federal funding or research support from, acted as a consultant to, received travel support from, and/or received a speaker's honorarium from the Cole Family Research Fund, Simons Foundation, Ingalls Foundation, Forest Laboratories, Ecoeos, IntegraGen, Kugona LLC, Shire Development, Bristol-Myers Squibb, Roche Pharma, National Institutes of Health, and the Brain and Behavior Research Foundation, all unrelated to this project. S.W.S. is on the Scientific Advisory Committees of Population Bio and Deep Genomics, and intellectual property from his research held at the Hospital for Sick Children is licensed to Athena Diagnostics, and separately Lineagen. These relationships did not influence data interpretation or presentation during this study, but are being disclosed for potential future considerations. M.S. reports grant support from Novartis, Roche, Pfizer, Ipsen, LAM Therapeutics and Quadrant Biosciences, and he has served on Scientific Advisory Boards for Sage, Roche, Celgene, and Takeda, all unrelated to this project. The other authors declare no conflicts of interest.