Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation
| Autor: | Bomnun Lee, Jongsun Jung, Chul-Ho Lee, Yangrae Cho, Jong Hui Hong, Jin Sung Lee, Byong Joon Kim, Gilly Yun, Min-Ho Kim, Jongcheol Jung, Younhee Ko, Eun-Goo Jeong |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
lcsh:Medicine Disease Polymorphism Single Nucleotide Article Workflow 03 medical and health sciences Targeted ngs Rare mutations Genetic variation Humans Medicine Genetic Predisposition to Disease Allele lcsh:Science Gene Alleles Genetic Association Studies Genetics Multidisciplinary business.industry lcsh:R Genetic Variation High-Throughput Nucleotide Sequencing Data interpretation Sequence Analysis DNA 030104 developmental biology Mutation Mutation (genetic algorithm) lcsh:Q business |
| Zdroj: | Scientific Reports Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017) |
| ISSN: | 2045-2322 |
| DOI: | 10.1038/s41598-017-09247-5 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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