About the project

Mutalisk is a free and public web service program that enables comprehensive analysis of somatic DNA mutations with genome regulation elements and DNA sequence contexts.

Somatic DNA mutations are consequences of various non-random biological processes in somatic cells such as DNA repair and other endogenous/exogenous mutational processes. These mutations are not uniformly distributed genome-wide, but enriched in certain genomic loci, specific DNA sequence, and/or epigenome contexts according to the mutational processes.

Through elegant graphics and calculated statistics, this tool is designed to help researchers analyze the enrichment of somatic mutations and view potential causes of mutation rate variation for a list of somatic mutations. The input of the program is the standard vcf file, obtained from whole-genome/exome sequencing of single or multiple samples. Mutalisk performs the following analyses based on the mutations list:

   A. Presence of regional hypermutation (Kataegis)
        - Standard rainfall is introduced
   B. Systematic decomposition of mutational signatures (COSMIC mutational signatures)
        - Linear regression is used for the signature decomposition. Overfitting is controlled using Bayesian Information Criterion (BIC)
   C. Associations between somatic mutation density and comprehensive genomic, epigenomic and transcriptional features including
        - Transcriptional gene annotation
        - Potential enrichments with more than ~10 different genomic elements such as replication timing and histone modifications (ENCODE project dataset)


Lee J., Lee A.J., Lee JK., et al. Mutalisk: a web-based somatic MUTation AnaLysIS toolKit for genomic, transcriptional and epigenomic signatures, Nucleic Acids Research, gky406, 2018.


[1] Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, et al. Signatures of mutational processes in human cancer. Nature. 2013;500:415-21.
[2] Nik-Zainal S, Alexandrov LB, Wedge DC, Van Loo P, Greenman CD, Raine K, et al. Mutational processes molding the genomes of 21 breast cancers. Cell. 2012;149:979-93.
[3] Schuster-Bockler B, Lehner B. Chromatin organization is a major influence on regional mutation rates in human cancer cells. Nature. 2012;488:504-7.
[4] Nik-Zainal S, Davies H, Staaf J, Ramakrishna M, Glodzik D, Zou X, et al. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. 2016;534:47-54.
[5] Pleasance ED, Cheetham RK, Stephens PJ, McBride DJ, Humphray SJ, Greenman CD, et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature. 2010;463:191-6.

Release notes

[Feb 2018] Add mutaional signatures data of PCAWG
[Dec 2017] Correlation with regulatory elements (ENCODE)
[Nov 2017] Correlation with transcriptional strand bias and
[Nov 2017]replication timing
[Oct 2017] Generation of mutation rainfall plot (kataegis)
[Jun 2017] Decomposition of mutational signatures (COSMIC)

National Cancer Center. 323 Ilsan-ro, Ilsandong-gu, Goyang-si Gyeonggi-do, 10408, Republic of Korea