Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

The promise of whole-exome sequencing in medical genetics

Wed May 22 09:43:50 2024

(2014) The promise of whole-exome sequencing in medical genetics. Journal of Human Genetics. pp. 5-15. ISSN 1434-5161

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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
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
Page Range: pp. 5-15
Journal or Publication Title: Journal of Human Genetics
Journal Index: ISI
Volume: 59
Number: 1
Identification Number:
ISSN: 1434-5161
Depositing User: مهندس مهدی شریفی

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