Journal article icon

Journal article

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

Abstract:
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:
Published
Peer review status:
Peer reviewed
Version:
Publisher's Version

Actions


Access Document


Files:
Publisher copy:
10.1038/s41436-018-0404-y

Authors


Van Der Donk, R More by this author
Schuurs-Hoeijmakers, JHM More by this author
Koolen, DA More by this author
Goltstein, LCMJ More by this author
Expand authors...
Publisher:
Springer Nature Publisher's website
Journal:
Genetics in Medicine Journal website
Publication date:
2018-12-20
Acceptance date:
2018-11-16
DOI:
EISSN:
1530-0366
ISSN:
1098-3600
Pubs id:
pubs:950949
URN:
uri:6bec444b-d4f4-434c-9664-949137052098
UUID:
uuid:6bec444b-d4f4-434c-9664-949137052098
Local pid:
pubs:950949

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP