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Gene panel for Mendelian strokes
- Source :
- Stroke and Vascular Neurology, Vol 5, Iss 4 (2020), Stroke and Vascular Neurology
- Publication Year :
- 2020
- Publisher :
- BMJ, 2020.
-
Abstract
- BackgroundMendelian stroke causes nearly 7% of ischaemic strokes and is also an important aetiology of cryptogenic stroke. Identifying the genetic abnormalities in Mendelian strokes is important as it would facilitate therapeutic management and genetic counselling. Next-generation sequencing makes large-scale sequencing and genetic testing possible.MethodsA systematic literature search was conducted to identify causal genes of Mendelian strokes, which were used to construct a hybridization-based gene capture panel. Genetic variants for target genes were detected using Illumina HiSeq X10 and the Novaseq platform. The sensitivity and specificity were evaluated by comparing the results with Sanger sequencing.Results53 suspected patients of Mendelian strokes were analysed using the panel of 181 causal genes. According to the American College of Medical Genetics and Genomics standard, 16 likely pathogenic/variants of uncertain significance genetic variants were identified. Diagnostic testing was conducted by comparing the consistency between the results of panel and Sanger sequencing. Both the sensitivity and specificity were 100% for the panel.ConclusionThis panel provides an economical, time-saving and labour-saving method to detect causal mutations of Mendelian strokes.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Heredity
Genetic counseling
Genomics
Computational biology
Biology
lcsh:RC346-429
03 medical and health sciences
symbols.namesake
0302 clinical medicine
Predictive Value of Tests
Gene panel
Protocol
medicine
Humans
Genetic Predisposition to Disease
Gene
lcsh:Neurology. Diseases of the nervous system
Ischemic Stroke
Genetic testing
Sanger sequencing
medicine.diagnostic_test
Gene Expression Profiling
Genetic Variation
High-Throughput Nucleotide Sequencing
Reproducibility of Results
stroke
Pedigree
030104 developmental biology
technology
symbols
Mendelian inheritance
Medical genetics
Neurology (clinical)
Transcriptome
Cardiology and Cardiovascular Medicine
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 20598696 and 20598688
- Volume :
- 5
- Database :
- OpenAIRE
- Journal :
- Stroke and Vascular Neurology
- Accession number :
- edsair.doi.dedup.....58923959d445e72debd5b9a2212611c9