Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
Volume 10, Issue -, Pages 263-284Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-082908-150112
Keywords
sequencing; genomic enrichment; multiplex analysis; exon capture; hybrid capture; resequencing
Categories
Funding
- U.S. National Institutes of Health (NIH) National Heart Lung and Blood Institute [RO1 HL094976]
- NIH National Human Genome Research Institute (NHGRI) [R21 HG004749]
- NIH NHGRI [T32 HG00035]
- Agency for Science, Technology and Research, Singapore
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [R01HL094976] Funding Source: NIH RePORTER
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [R21HG004749, T32HG000035] Funding Source: NIH RePORTER
Ask authors/readers for more resources
The emergence of massively parallel DNA sequencing platforms has made resequencing an affordable approach to study genetic variation. However, the cost of whole genome resequencing remains too high to apply to large numbers of human samples. Genomic partitioning methods allow enrichment for regions of interest at a scale that is snatched to the throughput of the new sequencing platforms. We review general categories of methods for genomic partitioning including multiplex PCR, capture-by-circularization, and capture-by-hybridization. Parameters that are relevant to the performance of any given method include multiplexity, specificity, uniformity, input requirements, scalability, and cost. The successful development of genomic partitioning strategies will be key to taking full advantage of massively parallel sequencing, at least until resequencing of complete mammalian genomes becomes widely affordable.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available