Bioinformatics Methods in Medical Genetics and Genomics

Int J Mol Sci. 2020 Aug 28;21(17):6224. doi: 10.3390/ijms21176224.


Medical genomics relies on next-gen sequencing methods to decipher underlying molecular mechanisms of gene expression. This special issue collects materials originally presented at the "Centenary of Human Population Genetics" Conference-2019, in Moscow. Here we present some recent developments in computational methods tested on actual medical genetics problems dissected through genomics, transcriptomics and proteomics data analysis, gene networks, protein-protein interactions and biomedical literature mining. We have selected materials based on systems biology approaches, database mining. These methods and algorithms were discussed at the Digital Medical Forum-2019, organized by I.M. Sechenov First Moscow State Medical University presenting bioinformatics approaches for the drug targets discovery in cancer, its computational support, and digitalization of medical research, as well as at "Systems Biology and Bioinformatics"-2019 (SBB-2019) Young Scientists School in Novosibirsk, Russia. Selected recent advancements discussed at these events in the medical genomics and genetics areas are based on novel bioinformatics tools.

Keywords: bioinformatics; gene expression; genomics; human population genetics; medical genetics.

Publication types

  • Editorial
  • Introductory Journal Article

MeSH terms

  • Algorithms
  • Computational Biology / methods*
  • Data Mining
  • Genetics, Medical / methods*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Systems Biology