Accessing the impact of functional variants on human phenotypes by transcriptome analysis in individuals carrying different rSNP alleles

Accessing the impact of functional variants on human phenotypes by transcriptome analysis in individuals carrying different rSNP alleles Full article

Conference

Cognitive Sciences, Genomics and Bioinformatics
06-10 Jul 2020 , Новосибирск

Source

Proceedings - 2020 Cognitive Sciences, Genomics and Bioinformatics, CSGB 2020
Compilation, IEEE. 2020. 300 c.

Output data

Year: 2020, Article number : 9214706, Pages count : 4 DOI: 10.1109/CSGB51356.2020.9214706

Tags

1000 Genomes Project; functional annotation; phenotypic outcome; rSNPs; transcriptome analysis

Authors

Korbolina E. ¹ , Bryzgalov L. ¹ , Postovalov S. ² , Nedelko V. ³ , Berikov V. ³ , Merkulova T. ¹

Affiliations

1	Institute of Cytology and Genetics, Laboratory of Gene Expression Regulation, Novosibirsk, Russian Federation
2	Novosibirsk State Technical University, Department of Theoretical and Applied Informatics, Novosibirsk, Russian Federation
3	Sobolev Institute of Mathematics, Data Analysis Lab, Novosibirsk, Russian Federation

the problem of functional annotation of regulatory single nucleotide polymorphisms is considered. Previously we have identified 1476 human regulatory SNPs through an integrated epigenome and transcriptome analysis. Here we employed the analysis of differentially expressed genes in order to explore the extensive impact of these regulatory variants on the phenotypic landscape. © 2020 IEEE.

Korbolina E. , Bryzgalov L. , Postovalov S. , Nedelko V. , Berikov V. , Merkulova T.
Accessing the impact of functional variants on human phenotypes by transcriptome analysis in individuals carrying different rSNP alleles
In compilation Proceedings - 2020 Cognitive Sciences, Genomics and Bioinformatics, CSGB 2020. – IEEE., 2020. – C.10-13. DOI: 10.1109/CSGB51356.2020.9214706 Scopus OpenAlex

Scopus:	2-s2.0-85094827289
OpenAlex:	W3091769390

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