Smart approach for cost-effective genotyping of single nucleotide polymorphisms

Single Nucleotide Polymorphisms (SNPs) are in prime focus of genomic studies for their probable roles in diagnostics and prognosis of diseases and forensic science. SNaPshot/minisequencing reaction based genotyping of targeted SNPs is a method of choice due to its fast and reliable detection assay....

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Main Authors: Muhammad Usman Ghani, Muhammad Farooq Sabar, Muhammad Akram
Format: Article
Language:English
Published: Elsevier 2021-04-01
Series:Kuwait Journal of Science
Subjects:
Online Access:https://journalskuwait.org/kjs/index.php/KJS/article/view/8957
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author Muhammad Usman Ghani
Muhammad Farooq Sabar
Muhammad Akram
author_facet Muhammad Usman Ghani
Muhammad Farooq Sabar
Muhammad Akram
author_sort Muhammad Usman Ghani
collection DOAJ
description Single Nucleotide Polymorphisms (SNPs) are in prime focus of genomic studies for their probable roles in diagnostics and prognosis of diseases and forensic science. SNaPshot/minisequencing reaction based genotyping of targeted SNPs is a method of choice due to its fast and reliable detection assay. Here we described smart modifications in minisequencing reaction to make it cost effective assay for the detection of 15 SNPs in a single assay. The target SNPs were amplified in a multiplex PCR from genomic DNA and these multiplex PCR amplicons were utilized as a template in modified SNaPshot reaction for SNPs identification.  Modified protocol was assessed for reproducibility on more than 50 human DNA samples and it was observed that this modified method is at least five times more productive than original protocol recommended by the manufacturer. The current smart modifications in SNaPshot reaction were successfully optimized for asthma susceptible SNPs. However, these can be applied for cost effective genotyping of any type of genomic Single Nucleotide Polymorphisms.
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institution OA Journals
issn 2307-4108
2307-4116
language English
publishDate 2021-04-01
publisher Elsevier
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series Kuwait Journal of Science
spelling doaj-art-1cb3fe9ab7da425cb861d9455fe16c462025-08-20T02:30:28ZengElsevierKuwait Journal of Science2307-41082307-41162021-04-0148210.48129/kjs.v48i2.8957Smart approach for cost-effective genotyping of single nucleotide polymorphismsMuhammad Usman Ghani0Muhammad Farooq Sabar1Muhammad Akram2University of the PunjabUniversity of the PunjabUniversity of the PunjabSingle Nucleotide Polymorphisms (SNPs) are in prime focus of genomic studies for their probable roles in diagnostics and prognosis of diseases and forensic science. SNaPshot/minisequencing reaction based genotyping of targeted SNPs is a method of choice due to its fast and reliable detection assay. Here we described smart modifications in minisequencing reaction to make it cost effective assay for the detection of 15 SNPs in a single assay. The target SNPs were amplified in a multiplex PCR from genomic DNA and these multiplex PCR amplicons were utilized as a template in modified SNaPshot reaction for SNPs identification.  Modified protocol was assessed for reproducibility on more than 50 human DNA samples and it was observed that this modified method is at least five times more productive than original protocol recommended by the manufacturer. The current smart modifications in SNaPshot reaction were successfully optimized for asthma susceptible SNPs. However, these can be applied for cost effective genotyping of any type of genomic Single Nucleotide Polymorphisms.https://journalskuwait.org/kjs/index.php/KJS/article/view/8957AssayGenotypingSingle Nucleotide PolymorphismSmart ApproachSNaPshot
spellingShingle Muhammad Usman Ghani
Muhammad Farooq Sabar
Muhammad Akram
Smart approach for cost-effective genotyping of single nucleotide polymorphisms
Kuwait Journal of Science
Assay
Genotyping
Single Nucleotide Polymorphism
Smart Approach
SNaPshot
title Smart approach for cost-effective genotyping of single nucleotide polymorphisms
title_full Smart approach for cost-effective genotyping of single nucleotide polymorphisms
title_fullStr Smart approach for cost-effective genotyping of single nucleotide polymorphisms
title_full_unstemmed Smart approach for cost-effective genotyping of single nucleotide polymorphisms
title_short Smart approach for cost-effective genotyping of single nucleotide polymorphisms
title_sort smart approach for cost effective genotyping of single nucleotide polymorphisms
topic Assay
Genotyping
Single Nucleotide Polymorphism
Smart Approach
SNaPshot
url https://journalskuwait.org/kjs/index.php/KJS/article/view/8957
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AT muhammadakram smartapproachforcosteffectivegenotypingofsinglenucleotidepolymorphisms