GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Applied Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Structural Biology
Link
http://link.springer.com/content/pdf/10.1186/s12859-018-2027-3.pdf
Reference24 articles.
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3. Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 2016 Jan;44(D1):D862–8.
4. Jagadeesh KA, Wenger AM, Berger MJ, Guturu H, Stenson PD, Cooper DN, et al. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity. Nat Genet. 2016 Oct;48(12):1581–6.
5. Li Q, Wang K. Intervar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines. Am J Hum Genet. 2017;100(2):267–280.
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