Research Topic · Peer-Reviewed

Mutation Detection

Mutation detection encompasses the laboratory methods used to identify changes in DNA sequence, ranging from single-base substitutions and small insertions or deletions to larger structural rearrangements within genes and chromosomes. The goal is to determine whether a sample carries a variant relative to a referenc…

Curated from this journal's research 📚 5 peer-reviewed articles cited Cited 16× across the literature 🔖 ISSN 2575-7881 🗓 Reviewed July 2026

Overview

Mutation detection encompasses the laboratory methods used to identify changes in DNA sequence, ranging from single-base substitutions and small insertions or deletions to larger structural rearrangements within genes and chromosomes. The goal is to determine whether a sample carries a variant relative to a reference sequence and, increasingly, to quantify the proportion of mutant molecules present. Established approaches include direct Sanger sequencing, allele-specific and quantitative PCR, restriction-fragment analysis, high-resolution melting, and screening of defined exons for known polymorphisms, while next-generation sequencing now permits comprehensive variant calling across many loci. Sensitive techniques such as digital PCR enable absolute quantification of rare alleles, supporting detection of low-frequency mutations and circulating nucleic acids. Accurate mutation detection underpins the diagnosis of inherited metabolic disorders, the characterization of disease-associated alleles, pharmacogenetic testing, and the molecular workup of cancer, where somatic mutations guide prognosis and targeted therapy. It also informs studies of molecular evolution and sequence variation in pathogens. Key considerations include analytical sensitivity and specificity, limit of detection, distinction of true variants from sequencing artifacts, and confirmation by an independent method. Reliable interpretation requires careful reference comparison, appropriate controls, and an understanding of each platform's error profile.

Research published in this journal

5 peer-reviewed articles, ranked by relevance. Each links to its DOI.

How this research is being cited

The 5 articles above have been cited 16 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.

A sample of recent works citing this journal's research on Mutation Detection, linking to each citing work.

Editorial oversight

Curated from peer-reviewed research published in DNA And RNA Research (ISSN 2575-7881).

Journal editorial board
jianhui zhang · United States Masayoshi Yamaguchi · United States Li Mao · United States

This page summarises published research for orientation; it is not medical or professional advice.