ArticleMethods in molecular biology (Clifton, N.J.)2025
Targeted Next-Generation Sequencing in Rare Diseases.
Article in Methods in molecular biology (Clifton, N.J.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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Who cites it
3 citing papers in PubMed.
- Clinical management and pharmaceutical care of severeFrontiers in cellular and infection microbiology · 2026Review
- Identification of Genetic Variants Using Next-Generation Sequencing in Pediatric Myelodysplastic Syndrome: From Disease Biology to Clinical Applications.International journal of molecular sciences · 2025Article
- Familial complete pachydermoperiostosis presenting with vertebral hypertrophy and myelopathy.JBMR plus · 2025Article
Corrections and comments
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Authors and funding
2 authors.
Funding
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Abstract
Targeted next-generation sequencing (NGS) in rare disease focuses on genetic analysis of specific regions in genome that are linked to a rare disease. In addition to library preparation, sequencing, and data analysis, targeted NGS includes an additional step of target enrichment of selected genes and regions. It allows for more sensitive and profound sequencing, as it is a fast and cost-effective approach with less data burden and is therefore often a method of choice for identifying rare variants in known genes, especially in diagnostics of rare diseases. Several in silico tools address the pathogenicity predictions of rare variants of unknown significance (VUS) and can therefore facilitate clinical interpretation.
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