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Exome sequencing: the sweet spot before whole genomes

The development of massively parallel sequencing technologies, coupled with new massively parallel DNA enrichment technologies (genomic capture), has allowed the sequencing of targeted regions of the human genome in rapidly increasing numbers of samples. Genomic capture can target specific areas in...

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Detalles Bibliográficos
Autores principales: Teer, Jamie K., Mullikin, James C.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2953745/
https://www.ncbi.nlm.nih.gov/pubmed/20705737
http://dx.doi.org/10.1093/hmg/ddq333
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author Teer, Jamie K.
Mullikin, James C.
author_facet Teer, Jamie K.
Mullikin, James C.
author_sort Teer, Jamie K.
collection PubMed
description The development of massively parallel sequencing technologies, coupled with new massively parallel DNA enrichment technologies (genomic capture), has allowed the sequencing of targeted regions of the human genome in rapidly increasing numbers of samples. Genomic capture can target specific areas in the genome, including genes of interest and linkage regions, but this limits the study to what is already known. Exome capture allows an unbiased investigation of the complete protein-coding regions in the genome. Researchers can use exome capture to focus on a critical part of the human genome, allowing larger numbers of samples than are currently practical with whole-genome sequencing. In this review, we briefly describe some of the methodologies currently used for genomic and exome capture and highlight recent applications of this technology.
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spelling pubmed-29537452010-10-14 Exome sequencing: the sweet spot before whole genomes Teer, Jamie K. Mullikin, James C. Hum Mol Genet Articles The development of massively parallel sequencing technologies, coupled with new massively parallel DNA enrichment technologies (genomic capture), has allowed the sequencing of targeted regions of the human genome in rapidly increasing numbers of samples. Genomic capture can target specific areas in the genome, including genes of interest and linkage regions, but this limits the study to what is already known. Exome capture allows an unbiased investigation of the complete protein-coding regions in the genome. Researchers can use exome capture to focus on a critical part of the human genome, allowing larger numbers of samples than are currently practical with whole-genome sequencing. In this review, we briefly describe some of the methodologies currently used for genomic and exome capture and highlight recent applications of this technology. Oxford University Press 2010-10-15 2010-08-12 /pmc/articles/PMC2953745/ /pubmed/20705737 http://dx.doi.org/10.1093/hmg/ddq333 Text en Published by Oxford University Press 2010 http://creativecommons.org/licenses/by-nc/2.5/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Articles
Teer, Jamie K.
Mullikin, James C.
Exome sequencing: the sweet spot before whole genomes
title Exome sequencing: the sweet spot before whole genomes
title_full Exome sequencing: the sweet spot before whole genomes
title_fullStr Exome sequencing: the sweet spot before whole genomes
title_full_unstemmed Exome sequencing: the sweet spot before whole genomes
title_short Exome sequencing: the sweet spot before whole genomes
title_sort exome sequencing: the sweet spot before whole genomes
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2953745/
https://www.ncbi.nlm.nih.gov/pubmed/20705737
http://dx.doi.org/10.1093/hmg/ddq333
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