Exome sequencing: the sweet spot before whole genomes
Open Access
- 12 August 2010
- journal article
- review article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 19 (R2) , R145-R151
- https://doi.org/10.1093/hmg/ddq333
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.Keywords
This publication has 45 references indexed in Scilit:
- DNA Sequence Capture and Enrichment by Microarray Followed by Next-Generation Sequencing for Targeted Resequencing: Neurofibromatosis Type 1 Gene as a ModelClinical Chemistry, 2010
- Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencingGenomics, 2009
- Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia GenePublished by Elsevier ,2009
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencingProceedings of the National Academy of Sciences, 2009
- Microdroplet-based PCR enrichment for large-scale targeted sequencingNature Biotechnology, 2009
- Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcriptsGenome Biology, 2009
- Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencingHuman Molecular Genetics, 2009
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 2009
- High definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencingGenome Research, 2009
- Multiplex padlock targeted sequencing reveals human hypermutable CpG variationsGenome Research, 2009