News in molecular biology. Digest of scientific publications. Issue 1
This brief review presents scientific publications for the second quarter and early third quarter of 2025. The authors assessed studies on various topics: analysis of the results of whole-genome testing using biobanks and the relationship of identified variants with various disease phenotypes new artificial intelligence tool and statistical method that improve the efficiency of diagnostic search, accumulation of mutations in various cells, including oocytes, during life, description of the first patient in Russia with a hereditary disease, recently annotated in OMIM, BCARD syndrome. When compiling this digest, the authors' sphere of interest was not limited to a separate narrow area; they assessed the scale of the work carried out, its novelty, the results achieved, as well as the presentation of information about scientific work in the information field. At present, educational activities seem to be no less important for the full development of medical genetics and the integration of its methods into personalized medicine, than the scientific achievements themselves. The works presented in the digest received wide coverage not only from scientific and medical popular science portals, but also from leading Russian and foreign media outlets aimed at a wide audience.
Authors
- Elena E. Baranova (ORCID: https://orcid.org/0000-0001-9638-2303)
- J.M. Mushtakova
Institutions
- Russian Medical Academy of Continuous Professional Education (RU)
- The Patients Association (GB)
Publication Details
- Journal
- Laboratory Service
- Published
- 2025-11-25
- DOI
- https://doi.org/10.17116/labs2025140315
- Primary Topic
- Environmental Monitoring and Data Management
- Type
- article
- Field-Weighted Citation Impact
- 0.00