Aug 14, 2010

Exome sequencing: the sweet spot before whole genomes

Human Molecular Genetics
Jamie K Teer, James C Mullikin

Abstract

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.

Mentioned in this Paper

Genome
Genome Mapping
Genomics
Sequencing
Massively-Parallel Sequencing
Sequence Determinations, DNA
Genome Sequencing
Genetic Linkage
Genome, Human
Exome

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