[Computational analysis of human genome polymorphism].

Whereas the genome-era technologies have produced the sequence of complete human genome, the modern post-genome technologies aim at the understanding of mechanisms of processing of genetic information and elucidation of within-species variation. Single nucleotide polymorphisms (SNPs) comprise the majority of polymorphism in the human population. Non-synonymous coding SNPs together with SNPs in regulatory regions are believed to have the highest impact on complex disease etiology, quantitative traits and response to drug treatment.

[EDAS, databases of alternatively spliced human genes].

EDAS, a database of alternatively spliced human genes, contains data on the alignment of proteins, mRNAs, and EST. It contains information on all exons and introns observed, as well as elementary alternatives formed from them. The database makes it possible to filter the output data by changing the cut-off threshold by the significance level.

[How do point amino acid substitutions affect the protein structure?].

In order to estimate the influence of point mutations on the protein structure, 552 pairs of structurally aligned proteins with pairwise sequence identities greater than 60% were analyzed. We selected all isolated point mismatches from these alignments. The statistics of local conformational changes corresponding to these mismatches was studied.