The Russian Academy of Sciences
Биохимия
,  volume 89 ,  issue 6 ,  pages 982-995

Methods for Functional Characterization of Genetic Polymorphisms of Non-Coding Regulatory Regions of the Human Genome (Review)

Publication type: Journal Article
Publication date: 2024-12-25
The Russian Academy of Sciences
SJR: —
CiteScore: —
Impact factor: —
ISSN: 03209725
Abstract

Currently, numerous associations between genetic polymorphisms and various diseases have been characterized through Genome-Wide Association Studies. The majority of clinically significant polymorphisms are localized in non-coding regions of the genome. While modern bioinformatic resources make it possible to predict molecular mechanisms that explain the influence of non-coding polymorphisms on gene expression, such hypotheses require experimental verification. This review discusses the methods for elucidating the molecular mechanisms underlying the dependence of disease pathogenesis on specific genetic variants within non-coding sequences. A particular focus is on the methods to identify the transcription factors with binding efficiency contingent upon polymorphic variations. Despite remarkable progress in the bioinformatic resources enabling the prediction of the impact of polymorphisms on disease pathogenesis, the imperative for experimental approaches to this inquiry still persists.

Found 

Are you a researcher?

Create a profile to get free access to personal recommendations for colleagues and new articles.
Metrics
0
Share
Cite this
GOST |
Cite this
GOST Copy
Uvarova A. N. et al. Methods for Functional Characterization of Genetic Polymorphisms of Non-Coding Regulatory Regions of the Human Genome (Review) // Биохимия. 2024. Vol. 89. No. 6. pp. 982-995.
GOST all authors (up to 50) Copy
Uvarova A. N., Tkachenko E. A., Stasevich E. M., Zheremyan E. A., Korneev K. V., Kuprash D. V. Methods for Functional Characterization of Genetic Polymorphisms of Non-Coding Regulatory Regions of the Human Genome (Review) // Биохимия. 2024. Vol. 89. No. 6. pp. 982-995.
RIS |
Cite this
RIS Copy
TY - JOUR
DO - 10.31857/s0320972524060023
UR - https://journals.rcsi.science/0320-9725/article/view/274166
TI - Methods for Functional Characterization of Genetic Polymorphisms of Non-Coding Regulatory Regions of the Human Genome (Review)
T2 - Биохимия
AU - Uvarova, A N
AU - Tkachenko, E. A.
AU - Stasevich, E M
AU - Zheremyan, E. A.
AU - Korneev, K V
AU - Kuprash, D V
PY - 2024
DA - 2024/12/25
PB - The Russian Academy of Sciences
SP - 982-995
IS - 6
VL - 89
SN - 0320-9725
ER -
BibTex |
Cite this
BibTex (up to 50 authors) Copy
@article{2024_Uvarova,
author = {A N Uvarova and E. A. Tkachenko and E M Stasevich and E. A. Zheremyan and K V Korneev and D V Kuprash},
title = {Methods for Functional Characterization of Genetic Polymorphisms of Non-Coding Regulatory Regions of the Human Genome (Review)},
journal = {Биохимия},
year = {2024},
volume = {89},
publisher = {The Russian Academy of Sciences},
month = {dec},
url = {https://journals.rcsi.science/0320-9725/article/view/274166},
number = {6},
pages = {982--995},
doi = {10.31857/s0320972524060023}
}
MLA
Cite this
MLA Copy
Uvarova, A. N., et al. “Methods for Functional Characterization of Genetic Polymorphisms of Non-Coding Regulatory Regions of the Human Genome (Review).” Биохимия, vol. 89, no. 6, Dec. 2024, pp. 982-995. https://journals.rcsi.science/0320-9725/article/view/274166.