Overview
Next-generation sequencing (NGS) refers to high-throughput technologies that determine the order of nucleotides in DNA or RNA in a massively parallel fashion, enabling rapid, large-scale analysis of genomes, exomes, transcriptomes, and targeted gene panels. By generating millions of sequence reads simultaneously, NGS supports applications including variant detection, mutation discovery, gene-expression profiling, and molecular diagnostics, and has transformed research and clinical practice in genetics, oncology, and personalized medicine. Its outputs require bioinformatic analysis to identify clinically and biologically relevant variants. Research in this area applies sequencing and molecular techniques to detect mutations, characterize disease-associated variants, and inform diagnosis and targeted therapy. The journal publishes peer-reviewed work relevant to sequencing and molecular genetics, including molecular analysis of disease-causing gene variants, identification of novel mutations underlying inherited disorders, detection of somatic mutations in tumours, microRNA quantification for cancer screening, proteomic and genomic techniques in medical research, immunogenomic approaches, and molecular diagnosis in cancer. This work illustrates how sequencing and related molecular methods are used to uncover the genetic basis of disease, support diagnostic and screening strategies, and advance personalized medicine, reflecting the central role of high-throughput sequencing in modern genetic and biomedical research.
Research published in this journal
12 peer-reviewed articles, ranked by relevance. Each links to its DOI.
A Trio Study Showing Novel Gene Mutation In LAMB3 Causing Junctional Epidermolysis Bullosa (Intermediate/ Severe)
Melanoma of the Breast with Smoothened (SMO) Mutation: Case Report and review of the Literature
Quantification of Micrornas by Absolute Dpcr for the Diagnostic Screening of Colon Cancer
Proteomic and Genomic Techniques in Medical Research: Applications in Cancer, Diagnostics, and Personalized Medicine
Endocrine Disrupting Chemicals: Epigenetic Relevance and Mechanisms
The Current Immunoassays and Emerging Immunogenomic Approaches for Immunomonitoring Cancer and Infectious Diseases
The Genetic Multiplicity- Multiple Endocrine Neoplasia type I
Fast Screening Method for Polymorphisms in Exon 9 of the Catalase Gene.
Liquid Chromatography-Mass Spectrometry (LC-MS) Applications in Food Safety–Review
Molecular Diagnosis in Clinical Management and Diagnosis of Thyroid Cancer
Lung Cancer and Isolated Adrenal Metastases: Different Disease?
How this research is being cited
The 12 articles above have been cited 15 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
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Diagnostic and Therapeutic Potential of Selected microRNAs in Colorectal Cancer: A Literature Review2025 · Cancers
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Diagnostic and Therapeutic Potential of Selected microRNAs in Colorectal Cancer: A Literature Review2025 · Cancers
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2024 · Diagnostics
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2024 · Diagnostics
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2023 · Frontiers in Pharmacology
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2023 · Medical Oncology
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2023 · Medical Oncology
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2023 · Frontiers in Pharmacology
A sample of recent works citing this journal's research on Next-Generation Sequencing, linking to each citing work.