REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-49224-8.pdf
Reference21 articles.
1. Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).
2. Ghosh, R., Oak, N. & Plon, S. E. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Genome Biol. 18, 225 (2017).
3. Mesbah-Uddin, M., Elango, R., Banaganapalli, B., Shaik, N. A. & Al-Abbasi, F. A. In-silico analysis of inflammatory bowel disease (IBD) GWAS loci to novel connections. PLoS One 10, e0119420 (2015).
4. Kircher, M. et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46, 310–315 (2014).
5. Dong, C. et al. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum. Mol. Genet. 24, 2125–2137 (2015).
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