| Title: | Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank |
| Journal: | J Med Genet |
| Published: | 1 Mar 2019 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/30343275/ |
| DOI: | https://doi.org/10.1136/jmedgenet-2018-105477 |
Publication 1702
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Abstract
We have called CNVs in the full UK Biobank. 488,423 individual CEL files were downloaded in 2016 and 2017. They were analysed with Affymetrix Powertools, followed by PennCNV.All the methods are detailed in the supplementary information of our first paper: Kendall K, Rees E, Escott-Price V, Einon M, ThomasR, Hewitt J, C O Donovan MC, Owen MJ, Walters J, Kirov G.
Cognitive performance among carriers of pathogenic copy number variants: Analysis of 152,000 UK Biobank subjects. Biol Psychiatry, 2017, 82(2), 103 110.
The 92 Pathogenic CNVs loci have been checked, however the remaining CNVs have not been examined, so there are likely to be false-positives.
1 Author
- Crawford K et al.
1 Application
| Application ID | Title |
|---|---|
| 14421 | Identifying the spectrum of biomedical traits in adults with pathogenic copy number variants (CNVs) |
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