Targeted genome-wide enrichment of functional regions.

Only a small fraction of large genomes such as that of the human contains the functional regions such as the exons, promoters, and polyA sites. A platform technique for selective enrichment of functional genomic regions will enable several next-generation sequencing applications that include the dis...

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Autores principales: Periannan Senapathy, Ashwini Bhasi, Jeffrey Mattox, Perundurai S Dhandapany, Sakthivel Sadayappan
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Publicado: Public Library of Science (PLoS) 2010
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Acceso en línea:https://doaj.org/article/e48a5ad1a8af41168080bac96cf4a4da
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spelling oai:doaj.org-article:e48a5ad1a8af41168080bac96cf4a4da2021-12-02T20:20:45ZTargeted genome-wide enrichment of functional regions.1932-620310.1371/journal.pone.0011138https://doaj.org/article/e48a5ad1a8af41168080bac96cf4a4da2010-06-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20585402/?tool=EBIhttps://doaj.org/toc/1932-6203Only a small fraction of large genomes such as that of the human contains the functional regions such as the exons, promoters, and polyA sites. A platform technique for selective enrichment of functional genomic regions will enable several next-generation sequencing applications that include the discovery of causal mutations for disease and drug response. Here, we describe a powerful platform technique, termed "functional genomic fingerprinting" (FGF), for the multiplexed genomewide isolation and analysis of targeted regions such as the exome, promoterome, or exon splice enhancers. The technique employs a fixed part of a uniquely designed Fixed-Randomized primer, while the randomized part contains all the possible sequence permutations. The Fixed-Randomized primers bind with full sequence complementarity at multiple sites where the fixed sequence (such as the splice signals) occurs within the genome, and multiplex amplify many regions bounded by the fixed sequences (e.g., exons). Notably, validation of this technique using cardiac myosin binding protein-C (MYBPC3) gene as an example strongly supports the application and efficacy of this method. Further, assisted by genomewide computational analyses of such sequences, the FGF technique may provide a unique platform for high-throughput sample production and analysis of targeted genomic regions by the next-generation sequencing techniques, with powerful applications in discovering disease and drug response genes.Periannan SenapathyAshwini BhasiJeffrey MattoxPerundurai S DhandapanySakthivel SadayappanPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 5, Iss 6, p e11138 (2010)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Periannan Senapathy
Ashwini Bhasi
Jeffrey Mattox
Perundurai S Dhandapany
Sakthivel Sadayappan
Targeted genome-wide enrichment of functional regions.
description Only a small fraction of large genomes such as that of the human contains the functional regions such as the exons, promoters, and polyA sites. A platform technique for selective enrichment of functional genomic regions will enable several next-generation sequencing applications that include the discovery of causal mutations for disease and drug response. Here, we describe a powerful platform technique, termed "functional genomic fingerprinting" (FGF), for the multiplexed genomewide isolation and analysis of targeted regions such as the exome, promoterome, or exon splice enhancers. The technique employs a fixed part of a uniquely designed Fixed-Randomized primer, while the randomized part contains all the possible sequence permutations. The Fixed-Randomized primers bind with full sequence complementarity at multiple sites where the fixed sequence (such as the splice signals) occurs within the genome, and multiplex amplify many regions bounded by the fixed sequences (e.g., exons). Notably, validation of this technique using cardiac myosin binding protein-C (MYBPC3) gene as an example strongly supports the application and efficacy of this method. Further, assisted by genomewide computational analyses of such sequences, the FGF technique may provide a unique platform for high-throughput sample production and analysis of targeted genomic regions by the next-generation sequencing techniques, with powerful applications in discovering disease and drug response genes.
format article
author Periannan Senapathy
Ashwini Bhasi
Jeffrey Mattox
Perundurai S Dhandapany
Sakthivel Sadayappan
author_facet Periannan Senapathy
Ashwini Bhasi
Jeffrey Mattox
Perundurai S Dhandapany
Sakthivel Sadayappan
author_sort Periannan Senapathy
title Targeted genome-wide enrichment of functional regions.
title_short Targeted genome-wide enrichment of functional regions.
title_full Targeted genome-wide enrichment of functional regions.
title_fullStr Targeted genome-wide enrichment of functional regions.
title_full_unstemmed Targeted genome-wide enrichment of functional regions.
title_sort targeted genome-wide enrichment of functional regions.
publisher Public Library of Science (PLoS)
publishDate 2010
url https://doaj.org/article/e48a5ad1a8af41168080bac96cf4a4da
work_keys_str_mv AT periannansenapathy targetedgenomewideenrichmentoffunctionalregions
AT ashwinibhasi targetedgenomewideenrichmentoffunctionalregions
AT jeffreymattox targetedgenomewideenrichmentoffunctionalregions
AT perunduraisdhandapany targetedgenomewideenrichmentoffunctionalregions
AT sakthivelsadayappan targetedgenomewideenrichmentoffunctionalregions
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