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Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation

Authors
 Yangrae Cho  ;  Chul-Ho Lee  ;  Eun-Goo Jeong  ;  Min-Ho Kim  ;  Jong Hui Hong  ;  Younhee Ko  ;  Bomnun Lee  ;  Gilly Yun  ;  Byong Joon Kim  ;  Jongcheol Jung  ;  Jongsun Jung  ;  Jin-Sung Lee 
Citation
 Scientific Reports, Vol.7(1) : 9810, 2017 
Journal Title
 Scientific Reports 
Issue Date
2017
Abstract
Next-generation sequencing (NGS) technology has improved enough to discover mutations associated with genetic diseases. Our study evaluated the feasibility of targeted NGS as a primary screening tool to detect causal variants and subsequently predict genetic diseases. We performed parallel computations on 3.7-megabase-targeted regions to detect disease-causing mutations in 103 participants consisting of 81 patients and 22 controls. Data analysis of the participants took about 6 hours using local databases and 200 nodes of a supercomputer. All variants in the selected genes led on average to 3.6 putative diseases for each patient while variants restricted to disease-causing genes identified the correct disease. Notably, only 12% of predicted causal variants were recorded as causal mutations in public databases: 88% had no or insufficient records. In this study, most genetic diseases were caused by rare mutations and public records were inadequate. Most rare variants, however, were not associated with genetic diseases. These data implied that novel, rare variants should not be ignored but interpreted in conjunction with additional clinical data. This step is needed so appropriate advice can be given to primary doctors and parents, thus fulfilling the purpose of this method as a primary screen for rare genetic diseases.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/161653
DOI
10.1038/s41598-017-09247-5
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
Yonsei Authors
이진성(Lee, Jin Sung)
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