(2014) The promise of whole-exome sequencing in medical genetics. Journal of Human Genetics. pp. 5-15. ISSN 1434-5161
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Abstract
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different DNA strands at once. These technologies are revolutionizing our understanding in medical genetics, accelerating health-improvement projects, and ushering to a fully understood personalized medicine in near future. Whole-exome sequencing (WES) is application of the next-generation technology to determine the variations of all coding regions, or exons, of known genes. WES provides coverage of more than 95 of the exons, which contains 85 of disease-causing mutations in Mendelian disorders and many disease-predisposing SNPs throughout the genome. The role of more than 150 genes has been distinguished by means of WES, and this statistics is quickly growing. In this review, the impacts of WES in medical genetics as well as its consequences leading to improve health care are summarized.
| Item Type: | Article | ||||||||
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| Keywords: | cancer common disease medical genomics Mendelian disorder whole-exome sequencing de-novo mutations intellectual-disability syndrome cause genitopatellar syndrome identifies frequent mutation recurrent somatic mutations nonsyndromic hearing-loss polymerase-chain-reaction coffin-siris syndrome human genome sequence mental-retardation Genetics & Heredity | ||||||||
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| Page Range: | pp. 5-15 | ||||||||
| Journal or Publication Title: | Journal of Human Genetics | ||||||||
| Journal Index: | ISI | ||||||||
| Volume: | 59 | ||||||||
| Number: | 1 | ||||||||
| Identification Number: | https://doi.org/10.1038/jhg.2013.114 | ||||||||
| ISSN: | 1434-5161 | ||||||||
| Depositing User: | مهندس مهدی شریفی | ||||||||
| URI: | http://eprints.medilam.ac.ir/id/eprint/685 |
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