These authors contributed equally to this work.
Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants
Article first published online: 26 MAR 2013
© 2013 Wiley Periodicals, Inc.
Volume 34, Issue 6, pages 836–841, June 2013
How to Cite
Kenna, K. P., McLaughlin, R. L., Hardiman, O. and Bradley, D. G. (2013), Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants. Hum. Mutat., 34: 836–841. doi: 10.1002/humu.22303
Additional Supporting Information may be found in the online version of this article.
Communicated by Lars Bertram
- Issue published online: 20 MAY 2013
- Article first published online: 26 MAR 2013
- Accepted manuscript online: 27 FEB 2013 11:58AM EST
- Manuscript Accepted: 15 FEB 2013
- Manuscript Received: 10 SEP 2012
- Health Seventh Framework Programme (FP7/2007–2013; 259867)
- Irish Health Research Board
- Trinity Foundation and Research Motor Neurone
This article has been cited by:
- 3Medical genomics: The intricate path from genetic variant identification to clinical interpretation, Applied & Translational Genomics, 2014,, , , , ,
- 4The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing, Genetics in Medicine, 2014,, , , , , , , , , , , , , , , ,
- You have free access to this content5
- 6Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing, Journal of Medical Genetics, 2013, 50, 11, 776, , , , , , , , , , ,
- 8Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease, Human Genetics, 2013, 132, 10, 1077, , , , ,