Genome-wide analysis, modeling and simulation of clustered mutational signatures in cancer cells

Genome-wide analysis, modeling and simulation of clustered mutational signatures in cancer cells

IRN  AP09260233


In the coming era of personalized genomic medicine, huge amounts of digital data are produced by molecular makeups for each patient, creating challenging tasks for computer-aided processing and analysis. The present project is aimed to study clustered cancer mutations, including the study of mutations, associated with DNA repair deficiency.

This project aims to characterize the patterns of cancer clustered mutations and consists of three complementary objectives: (i) analysis of cancer whole-genome mutational datasets, (ii) new software package for analysis and simulation of clustered mutations, (iii) new human cell lines for experimental mutagenesis studies.


  1. Software package for analysis and simulation of clustered mutations.
  2. Whole genome cancer datasets from our studies.
  3. Human cell lines overexpressing DNA repair protein.
  4. Two PhD students of Nazarbayev University will complete their theses on the base of this research.
  5. Scientific results will be published in professional journals, as required by grant call
  6. Research group
  7. Б.Т. Маткаримов

Д. Бегимбетова

Е. Байкен, PhD студент НУ

З. Рамазанова, PhD студент НУ

  1. Publications
  2. Andrey A. Yurchenko, Ismael Padioleau, Bakhyt T. Matkarimov, Jean Soulier, Alain Sarasin, Sergey Nikolaev. XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature. Nature Communications, 2020, Volume 11, Article number 5834
  3. Yeldar Baiken, Damira Kanayeva, Sabira Taipakova, Regina Groisman, Alexander ISHCHENKO, Dinara Begimbetova, Bakhyt Matkarimov and Murat Saparbaev. Role of base excision repair pathway in the processing of complex DNA damage generated by oxidative stress and anticancer drugs. Frontiers in Cell and Developmental Biology, 2021, vol. 8, article number 617884.
  4. Y Baiken, D Kanayeva, A Zhulamanova, B Matkarimov, R Groisman, M Saparbaev. Study of the role human NEIL3 DNA glycosylase in the repair of cisplatin DNA damage in HeLa S3 cells. FEBS OPEN BIO, 2021, vol. 11 Supplement 1, pp. 419-419. Conference: 45th FEBS Congress, 3-8 July 2021, Ljubljana, Slovenia.