It is known that a mutation in the human genome can lead to a change in not one, but several characteristics. In the overwhelming number of published studies, the search for such mutations is carried out by analyzing each characteristic separately. A new method, developed by a team of scientists under the leadership of Yuri Aulchenko, Director of the Laboratory of Theoretical and Applied Functional Genomics (LTAFG) at the NSU Department of Natural Sciences and Doctor of Biological Sciences, makes it possible to analyze several characteristics simultaneously. This facilitates the search for new mutations in genes.
This approach significantly increases the power of genetic analysis, contributing to a better understanding of the genetic architecture of complex characteristics. This, in turn, will make it possible to develop and improve methods of prevention, diagnosis, prognosis and treatment of socially significant human diseases.
The new method is described in an article published in the journal, Nature Communication, on September 6, 2017.
This work is the result of long-term collaboration between the NSU, the Genos laboratory (Zagreb, Croatia), and the University of Edinburgh (UK). The method developed is already used to study the molecular basis of cardiovascular diseases - one of the leading causes of death in Russia. This research is conducted by the NSU’s LTAFG under the direction of Dmitry Alekseev, Candidate of Biological Sciences, and a group from the University of Edinburgh under the guidance of Professor James Wilson with the support from a grant by the British Council.
The full text of the scientific article can be found at this link.