ArticlePloS one2020
Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 39 citations in OpenAlex.
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- Highly multiplexed targeted sequencing strategy for infectious disease surveillance.BMC biotechnology · 2023Article
- Chimeras in Merlot grapevine revealed by phased assembly.BMC genomics · 2023Article
- Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.International journal of molecular sciences · 2023Article
- Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy.International journal of molecular sciences · 2022Article
- Pain triangle phenomenon in possible association with SCN9A: A case report.Molecular genetics & genomic medicine · 2022Article
- Review
- Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy.International journal of molecular sciences · 2022Article
- An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency.NAR genomics and bioinformatics · 2022Article
- A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.Journal of neurophysiology · 2021Article
- Next-Generation Sequencing Applications for Inherited Retinal Diseases.International journal of molecular sciences · 2021Review
- Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.PloS one · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
21 authors at 7 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Resolving the genetic architecture of painful neuropathy will lead to better disease management strategies. We aimed to develop a reliable method to re-sequence multiple genes in a large cohort of painful neuropathy patients at low cost. In this study, we compared sensitivity, specificity, targeting efficiency, performance and cost effectiveness of Molecular Inversion Probes-Next generation sequencing (MIPs-NGS) and TruSeq® Custom Amplicon-Next generation sequencing (TSCA-NGS). Capture probes were designed to target nine sodium channel genes (SCN3A, SCN8A-SCN11A, and SCN1B-SCN4B). One hundred sixty-six patients with diabetic and idiopathic neuropathy were tested by both methods, 70 patients were validated by Sanger sequencing. Sensitivity, specificity and performance of both techniques were comparable, and in agreement with Sanger sequencing. The average targeted regions coverage for MIPs-NGS was 97.3% versus 93.9% for TSCA-NGS. MIPs-NGS has a more versatile assay design and is more flexible than TSCA-NGS. The cost of MIPs-NGS is >5 times cheaper than TSCA-NGS when 500 or more samples are tested. In conclusion, MIPs-NGS is a reliable, flexible, and relatively inexpensive method to detect genetic variations in a large cohort of patients. In our centers, MIPs-NGS is currently implemented as a routine diagnostic tool for screening of sodium channel genes in painful neuropathy patients.
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