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New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)

G-quadruplexes (G4s) are non-canonical DNA and RNA secondary structures that control gene regulation. A single nucleotide polymorphism (SNP) is a small genetic variation occurring within a DNA sequence and accounting for the variabilities between individuals. While the majority of SNPs, especially t...

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Detalles Bibliográficos
Autores principales: SAAD, Mona, Shebaby, Marc, Mehawej, Cybel, Faour, Wissam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563633/
https://www.ncbi.nlm.nih.gov/pubmed/36249933
http://dx.doi.org/10.1016/j.mex.2022.101875
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author SAAD, Mona
Shebaby, Marc
Mehawej, Cybel
Faour, Wissam
author_facet SAAD, Mona
Shebaby, Marc
Mehawej, Cybel
Faour, Wissam
author_sort SAAD, Mona
collection PubMed
description G-quadruplexes (G4s) are non-canonical DNA and RNA secondary structures that control gene regulation. A single nucleotide polymorphism (SNP) is a small genetic variation occurring within a DNA sequence and accounting for the variabilities between individuals. While the majority of SNPs, especially those frequent in the population, are considered as benign genetic variations, few others can lead to diseases. SNPs occurring in G4 sequences were reported to modulate gene regulation. In order to find overlaps between predicted G4 sequences and SNPs located in the genomic regions, we developed two complementary computational python codes (SNP-locator and G4-overlap). The codes map a mutation to the overlapping/closest G4 sequences, based on the genetic variant name and the FASTA format of the corresponding gene. We validated these two codes on a set of 31 SNP variants occurring in cytochromes P450 • SNP-locator code locates any SNP in promoters, upstream regulatory regions, exons and introns. • The SNP-locator code requires the FASTA genomic sequence of the studied gene and the genetic variant nomenclature at the cDNA level. • G4-overlap code maps the SNP to the overlapping or the closest G4 sequence.
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spelling pubmed-95636332022-10-15 New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s) SAAD, Mona Shebaby, Marc Mehawej, Cybel Faour, Wissam MethodsX Method Article G-quadruplexes (G4s) are non-canonical DNA and RNA secondary structures that control gene regulation. A single nucleotide polymorphism (SNP) is a small genetic variation occurring within a DNA sequence and accounting for the variabilities between individuals. While the majority of SNPs, especially those frequent in the population, are considered as benign genetic variations, few others can lead to diseases. SNPs occurring in G4 sequences were reported to modulate gene regulation. In order to find overlaps between predicted G4 sequences and SNPs located in the genomic regions, we developed two complementary computational python codes (SNP-locator and G4-overlap). The codes map a mutation to the overlapping/closest G4 sequences, based on the genetic variant name and the FASTA format of the corresponding gene. We validated these two codes on a set of 31 SNP variants occurring in cytochromes P450 • SNP-locator code locates any SNP in promoters, upstream regulatory regions, exons and introns. • The SNP-locator code requires the FASTA genomic sequence of the studied gene and the genetic variant nomenclature at the cDNA level. • G4-overlap code maps the SNP to the overlapping or the closest G4 sequence. Elsevier 2022-10-06 /pmc/articles/PMC9563633/ /pubmed/36249933 http://dx.doi.org/10.1016/j.mex.2022.101875 Text en © 2022 The Author(s). Published by Elsevier B.V. https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Method Article
SAAD, Mona
Shebaby, Marc
Mehawej, Cybel
Faour, Wissam
New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)
title New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)
title_full New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)
title_fullStr New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)
title_full_unstemmed New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)
title_short New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)
title_sort new complementary python codes to locate single nucleotide polymorphisms (snps) and overlapping g-quadruplex sequences (g4s)
topic Method Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563633/
https://www.ncbi.nlm.nih.gov/pubmed/36249933
http://dx.doi.org/10.1016/j.mex.2022.101875
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