mutationscan

MutationScan is a generic term for platforms and approaches used to detect genetic mutations across genomes or targeted regions. It encompasses sequencing-based and hybridization-based methods designed to identify single-nucleotide variants, insertions and deletions, copy-number alterations, and other structural changes. The goal is to survey genetic variation to identify disease-causing mutations, track evolutionary changes, or monitor pathogen mutations.

Typical workflows combine sample DNA extraction with library preparation or assay design, followed by data acquisition using next-generation sequencing, microarrays, or HRM scans. In sequencing-based MutationScan, reads are aligned to a reference genome, and variant-calling pipelines identify differences; detected variants are filtered, annotated, and prioritized. Validation using orthogonal methods such as Sanger sequencing or digital PCR is common, especially in clinical contexts. In non-sequencing approaches, mutation panels or HRM patterns flag samples for further sequencing.

Applications include diagnostic testing for inherited diseases, somatic mutation profiling in cancers, and surveillance of mutations in pathogens. In research, MutationScan supports gene discovery, genotype-phenotype correlations, and pharmacogenomics.

Limitations include sensitivity dependent on allele frequency and coverage, potential biases, interpretation challenges for variants of uncertain significance, and cost. The term is often used generically; specific implementations vary in scope, depth, and validation standards. Ethical and regulatory considerations apply when used for clinical decision-making.