ArticleFrontiers in genetics2020
Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed.
- Developmental validation of the rapidpuncher, an automated laser-based sampling system that eliminates cross-contamination in the forensic analysis of FTA cards.International journal of legal medicine · 2026Article
- Confirmation of Exome Sequencing Results Using Sanger Sequencing-Considerations in a Low-Resource Setting.Molecular genetics & genomic medicine · 2026Article
- Total hip arthroplasty in patients with alkaptonuria: a case report.Frontiers in surgery · 2026Article
- Development and validation of an MPS-based 513-Plex SNP identity panel for degraded forensic samples.Human genetics · 2025Article
- Development and Validation of a Standardised Genomic Tool for Conservation Management of the Koala (Animals : an open access journal from MDPI · 2025Article
- Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches.European journal of human genetics : EJHG · 2025Article
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- Review
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- Sanger validation of WGS variants.Scientific reports · 2025Article
- Navigating triplet repeats sequencing: concepts, methodological challenges and perspective for Huntington's disease.Nucleic acids research · 2025Review
- Allelic dropout in the endoglin (Frontiers in genetics · 2025Article
- Targeted Next-Generation Sequencing in Rare Diseases.Methods in molecular biology (Clifton, N.J.) · 2025Article
- A Pilot Study Based on the Correlation Between Whole Exome and Transcriptome Reveals Potent Variants in the Indian Population of Cervical Cancer.Indian journal of microbiology · 2024Article
- Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study.Diagnostics (Basel, Switzerland) · 2024Article
- The CARD9 Gene in Koalas (Journal of fungi (Basel, Switzerland) · 2024Article
- Application of the TaqMan ARMS-PCR Approach for Genotyping Drug-Induced Hearing Loss Using Dried Blood Samples.Current issues in molecular biology · 2024Article
- Genetic characterization of intramuscular myxomas.Pathology oncology research : POR · 2024Article
- Article
- The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.Journal of clinical medicine · 2023Review
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next-generation sequencing (NGS)'s crucial role in supporting genetic diagnosis and personalized medicine leads to the definition of Guidelines for Diagnostic NGS by the European Society of Human Genetics. Factors of different nature producing false-positive/negative NGS data together with the paucity of internationally accepted guidelines providing specified NGS quality metrics to be followed for diagnostics purpose made the Sanger validation of NGS variants still mandatory. We reported the analysis of three cases of discrepancy between NGS and Sanger sequencing in a cohort of 218 patients. NGS was performed by Illumina MiSeq
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