ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- The prevalence of spinal muscular atrophy carrier in China: Evidences from epidemiological surveys.Medicine · 2020Pooled it
- Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders.Genome medicine · 2026Article
- SDrecall: a sensitive approach for variant detection in segmental duplications.Genome biology · 2026Article
- Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.NPJ genomic medicine · 2025Article
- A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.Human molecular genetics · 2025Article
- Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome.Journal of translational medicine · 2025Article
- Comparative study of third-generation sequencing-based CASMA-trio and STR linkage analysis for identifying SMN1 2 + 0 carriers.Scientific reports · 2025Article
- Lumbar punctures based on computerized tomography scans combined with precise calculations: a new lumbar puncture technique for spinal muscular atrophy patients with scoliosis.Frontiers in neurology · 2025Article
- Complete genomic profiles of 1496 Taiwanese reveal curated medical insights.Journal of advanced research · 2024Article
- Variants located in intron 6 ofHeliyon · 2024Article
- Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.Human mutation · 2024Article
- Applications of genome sequencing as a single platform for clinical constitutional genetic testing.Genetics in medicine open · 2024Review
- Current Advances in Genetic Testing for Spinal Muscular Atrophy.Current genomics · 2023Review
- The Carrier Frequency of TwoGenes · 2023Article
- At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.JAMA network open · 2023Article
- Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province.BMC medical genomics · 2023Article
- Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.American journal of human genetics · 2023Article
- A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization.Frontiers in cellular neuroscience · 2023Article
- Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing.Frontiers in genetics · 2023Article
- Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India.Journal of family medicine and primary care · 2022Article
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Authors and funding
27 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate pan-ethnic SMN1 copy-number and sequence variation by hybridization-based target enrichment coupled with massively parallel sequencing or next-generation sequencing (NGS).
methodsNGS reads aligned to SMN1 and SMN2 exon 7 were quantified to determine the total combined copy number of SMN1 and SMN2. The ratio of SMN1 to SMN2 was calculated based on a single-nucleotide difference that distinguishes the two genes. SMN1 copy-number results were compared between the NGS and quantitative polymerase chain reaction and/or multiplex ligation-dependent probe amplification. The NGS data set was also queried for the g.27134T>G single-nucleotide polymorphism (SNP) and other SMN1 sequence pathogenic variants.
resultsThe sensitivity of the test to detect spinal muscular atrophy (SMA) carriers with one copy of SMN1 was 100% (95% confidence interval (CI): 95.9-100%; n = 90) and specificity was 99.6% (95% CI: 99.4-99.7%; n = 6,648). Detection of the g.27134T>G SNP by NGS was 100% concordant with an restriction fragment-length polymorphism method (n = 493). Ten single-nucleotide variants in SMN1 were detectable by NGS and confirmed by gene-specific amplicon-based sequencing. This comprehensive approach yielded SMA carrier detection rates of 90.3-95.0% in five ethnic groups studied.
conclusionWe have developed a novel, comprehensive SMN1 copy-number and sequence variant analysis method by NGS that demonstrated improved SMA carrier detection rates across the entire population examined.Genet Med advance online publication 19 January 2017.
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