ArticleScientific reports2017
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.Molecular genetics and metabolism reports · 2024Review
- Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations.International journal of neonatal screening · 2023Article
- A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.American journal of human genetics · 2022Review
- Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification.Current cardiology reports · 2021Review
- Genetic testing in dementia - utility and clinical strategies.Nature reviews. Neurology · 2021Review
- The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.Frontiers in pediatrics · 2021Review
- Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.Yonsei medical journal · 2019Article
- Integrated genome sizing (IGS) approach for the parallelization of whole genome analysis.BMC bioinformatics · 2018Article
- Development of the variant calling algorithm, ADIScan, and its use to estimate discordant sequences between monozygotic twins.Nucleic acids research · 2018Article
- Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.Frontiers in pediatrics · 2018Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
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