Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
Purpose The interpretation of genetic variants after genome-wide analysis is complex in heterogeneous disorders such as intellectual disability (ID). We investigate whether algorithms can be used to detect if a facial gestalt is present for three novel ID syndromes and if these techniques can help interpret variants of uncertain significance.
Methods Facial features were extracted from photos of ID patients harboring a pathogenic variant in three n... Expand abstract
- Publication status:
- Peer review status:
- Peer reviewed
- Publisher's Version
- Springer Nature Publisher's website
- Genetics in Medicine Journal website
- Publication date:
- Acceptance date:
- Pubs id:
- Local pid:
- Copyright holder:
- van der Donk et al.
- Copyright date:
- © The Author(s) 2018. This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. If you remix, transform, or build upon this article or a part thereof, you must distribute your contributions under the same license as the original. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/.