Exome Sequencing: The Sweet Spot Before Whole Genomes.
Summary of "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 the genome, including genes of interest and linkage regions, but this limits the study to what is already known. Exome capture allows 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.
Affiliation
Genetic Disease Research Branch and.
Journal Details
This article was published in the following journal.
Name: Human molecular genetics
ISSN: 1460-2083
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20705737
- DOI: http://dx.doi.org/10.1093/hmg/ddq333
Medical and Biotech [MESH] Definitions
High-throughput Nucleotide Sequencing
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.
Ipomoea Batatas
A plant species of the genus IPOMOEA, family CONVOLVULACEAE. Some cultivars are sweet and edible whereas bitter varieties are a source of SAPONINS. This sweet potato is sometimes referred to as a yam (DIOSCOREA).
Sweet Syndrome
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
Sequence Analysis, Dna
A multistage process that includes DNA cloning, physical mapping, subcloning, sequencing, and information analysis.
Sequence Analysis, Rna
A multistage process that includes RNA cloning, physical mapping, subcloning, sequencing, and information analysis.
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