ReviewCurrent genetic medicine reports
Understanding the Basics of NGS: From Mechanism to Variant Calling.
Review in Current genetic medicine reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed.
- Microstructural disease and hypoperfusion in dilated cardiomyopathy underpin midwall septal fibrosis.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2026Article
- Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results.Prenatal diagnosis · 2026Article
- Phenotypic and Genomic Analysis of Antimicrobial Resistance inAntibiotics (Basel, Switzerland) · 2026Article
- A novel simulation tool for low-coverage whole-genome sequencing using multivariate Gaussian mixture models.BMC bioinformatics · 2026Article
- Rethinking DeepVariant: Efficient Neural Architectures for Intelligent Variant Calling.International journal of molecular sciences · 2026Article
- Discovering, Genotyping, and Annotating Structural Variants with the Genome Analysis Toolkit (GATK).Methods in molecular biology (Clifton, N.J.) · 2026Review
- Advancing Precision Medicine in Non-Small Cell Lung Cancer Diagnostics in a Southeast Asian Country.Cancer management and research · 2026Article
- Species-aware interpretation of vancomycin-related genomic signals in poultry-derivedFrontiers in veterinary science · 2026Article
- Comparative Phenotypic and Genotypic Analysis ofAntibiotics (Basel, Switzerland) · 2025Article
- Virulence Gene Profiles of Extended-Spectrum β-Lactamase (ESBL)-ProducingVeterinary sciences · 2025Article
- Article
- Transposable elements and heterochromatic regions are enriched for structural variation and sequence divergence in the genome of wild-type Caenorhabditis elegans.G3 (Bethesda, Md.) · 2025Article
- Clinical Characteristics and Survival of Ovarian Cancer Patients According to Homologous Recombination Deficiency Status.Cancers · 2025Article
- Technical and Biological Biases in Bulk Transcriptomic Data Mining for Cancer Research.Journal of Cancer · 2025Review
- Resistance evolution under potentiated sulphonamide pressure inFrontiers in veterinary science · 2025Article
- Diverse Facets of Nonhuman Sequences in Read Outputs of the Human Next-Generation Sequencing Data and Their Relevance with Viruses.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Exploring the potential of predicted miRNAs on the genes involved in the expansion of hematopoietic stem cells.Scientific reports · 2024Article
- Advances in single-cell sequencing technology in microbiome research.Genes & diseases · 2024Review
- Comprehensive Metagenomic Analysis of Veterinary Probiotics in Broiler Chickens.Animals : an open access journal from MDPI · 2024Article
- Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.Genes · 2024Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Identifying disease-causing mutations in DNA has long been the goal of genetic medicine. In the last decade, the toolkit for discovering DNA variants has undergone rapid evolution: mutations that were historically discovered by analog approaches like Sanger sequencing and multiplex ligation-dependent probe amplification ("MLPA") can now be decoded from a digital signal with next-generation sequencing ("NGS"). Given the explosive growth of NGS-based tests in the clinic, it is of the utmost importance that medical practitioners have a fundamental understanding of the newest NGS methodologies. To that end, here we provide a very basic overview of how NGS works, with particular emphasis on the close resemblance between the underlying chemistry of Sanger sequencing and NGS. Using a pair of simple analogies, we develop an intuitive framework for understanding how high-confidence detection of single-nucleotide polymorphisms, indels, and large deletions/duplications is possible with NGS alone.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.