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  5. DECIPHER: Improving genetic diagnosis through dynamic integration of genomic and clinical data.
 
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DECIPHER: Improving genetic diagnosis through dynamic integration of genomic and clinical data.
File(s)
annurev-genom-102822-100509.pdf (5.67 MB)
Published version
OA Location
https://www.annualreviews.org/doi/10.1146/annurev-genom-102822-100509
Author(s)
Foreman, Julia
Perrett, Daniel
Mazaika, Erica
Hunt, Sarah E
Ware, James S
more
Type
Journal Article
Abstract
DECIPHER (Database of Genomic Variation and Phenotype in Humans Using Ensembl Resources) shares candidate diagnostic variants and phenotypic data from patients with genetic disorders to facilitate research and improve the diagnosis, management, and therapy of rare diseases. The platform sits at the boundary between genomic research and the clinical community. DECIPHER aims to ensure that the most up-to-date data are made rapidly available within its interpretation interfaces to improve clinical care. Newly integrated cardiac case-control data that provide evidence of gene-disease associations and inform variant interpretation exemplify this mission. New research resources are presented in a format optimized for use by a broad range of professionals supporting the delivery of genomic medicine. The interfaces within DECIPHER integrate and contextualize variant and phenotypic data, helping to determine a robust clinico-molecular diagnosis for rare-disease patients, which combines both variant classification and clinical fit. DECIPHER supports discovery research, connecting individuals within the rare-disease community to pursue hypothesis-driven research. Expected final online publication date for the Annual Review of Genomics and Human Genetics, Volume 24 is August 2023. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
Date Issued
2023-06-07
Date Acceptance
2023-06-01
Citation
Annual Review of Genomics and Human Genetics, 2023, 24, pp.1-26
URI
http://hdl.handle.net/10044/1/106063
URL
https://www.annualreviews.org/doi/10.1146/annurev-genom-102822-100509
DOI
https://www.dx.doi.org/10.1146/annurev-genom-102822-100509
ISSN
1545-293X
Publisher
Annual Reviews
Start Page
1
End Page
26
Journal / Book Title
Annual Review of Genomics and Human Genetics
Volume
24
Copyright Statement
Copyright © 2023 by the author(s). This work is licensed under a Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See credit lines of images or other third-party material in this article for license information
License URL
https://creativecommons.org/licenses/by/4.0/
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/37285546
Subjects
0603 Evolutionary Biology
0604 Genetics
1801 Law
Genetics & Heredity
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2023-06-07
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