Schaaf, CP;
Betancur, C;
Yuen, RKC;
Parr, JR;
Skuse, DH;
Gallagher, L;
Bernier, RA;
... Vorstman, JAS; + view all
(2020)
A framework for an evidence-based gene list relevant to autism spectrum disorder.
Nature Reviews Genetics
, 21
(6)
pp. 367-376.
10.1038/s41576-020-0231-2.
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Abstract
Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individuals with ASD phenotypes, which requires an understanding of the level of evidence for individual NDD genes that supports an association with ASD. Consensus is currently lacking about which NDD genes have sufficient evidence to support a relationship to ASD. Estimates of the number of genes relevant to ASD differ greatly among research groups and clinical sequencing panels, varying from a few to several hundred. This Roadmap discusses important considerations necessary to provide an evidence-based framework for the curation of NDD genes based on the level of information supporting a clinically relevant relationship between a given gene and ASD.
| Type: | Article |
|---|---|
| Title: | A framework for an evidence-based gene list relevant to autism spectrum disorder |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41576-020-0231-2 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10100743 |
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