GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes
Author:
Funder
Newlife Foundation for Disabled Children
RCUK | Engineering and Physical Sciences Research Council
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/s41588-019-0560-2.pdf
Reference23 articles.
1. Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285–291 (2016).
2. Karczewski, K. J. et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. Preprint at bioRxiv https://doi.org/10.1101/531210 (2019).
3. Samocha, K. E. et al. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46, 944–950 (2014).
4. Petrovski, S., Wang, Q., Heinzen, E. L., Allen, A. S. & Goldstein, D. B. Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet. 9, e1003709 (2013).
5. Hamosh, A., Scott, A. F., Amberger, J. S., Bocchini, C. A. & McKusick, V. A. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 33, D514–D517 (2005).
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