Journal article
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
- Abstract:
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Purpose Genome sequencing (GS) for diagnosis of rare genetic disease is being introduced into the clinic, but the complexity of the data poses challenges for developing pipelines with high diagnostic sensitivity. We evaluated the performance of the Genomics England 100,000 Genomes Project (100kGP) panel-based pipelines, using craniosynostosis as a test disease.
Methods GS data from 114 probands with craniosynostosis and their relatives (314 samples...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Supplementary materials, 389.8KB)
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(Version of record, 586.6KB)
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- Publisher copy:
- 10.1038/s41436-021-01297-5
Authors
Funding
VTCT Foundation
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Bibliographic Details
- Publisher:
- Springer Nature Publisher's website
- Journal:
- Genetics in Medicine Journal website
- Volume:
- 23
- Issue:
- 12
- Pages:
- 2360–2368
- Publication date:
- 2021-08-25
- Acceptance date:
- 2021-07-22
- DOI:
- EISSN:
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1530-0366
- ISSN:
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1098-3600
Item Description
- Language:
- English
- Keywords:
- Pubs id:
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1187351
- Local pid:
- pubs:1187351
- Deposit date:
- 2021-07-23
Terms of use
- Copyright holder:
- Hyder et al.
- Copyright date:
- 2021
- Rights statement:
- © The Authors 2021. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits 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.
- Licence:
- CC Attribution (CC BY)
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