Visualizing the distribution of missense variants in a given protein sequence can be informative in relation to identifying potentially causal variants. However, such visualization does not provide quantitative assessment of clustering patterns and it cannot be applied in a high-throughput setting. CLUMP is a method for the rapid determination of mutation clustering patterns and their statistical significance.
Current release is CLUMP.1.0.0, last updated on 04/26/2015.
CLUMP-1.0.0.tar.gz 04/26/2015 Initial release with the manuscript
Please consult the readme page for usage details and a sample workflow.
R library package 'fpc'.
Turner TN, Douville C, Kim D, Stenson PD, Cooper DN, Chakravarti A, Karchin R (2015) Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. Hum Mol Genet. 24(21):5995-6002
Christopher Douville: cdouvil1 at jhmi dot edu