Journal Article

Exome sequencing: the sweet spot before whole genomes

Jamie K. Teer and James C. Mullikin

in Human Molecular Genetics

Volume 19, issue R2, pages R145-R151
Published in print October 2010 | ISSN: 0964-6906
Published online August 2010 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddq333

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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.

Journal Article.  3900 words.  Illustrated.

Subjects: Genetics and Genomics

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