Mutationprofil

Mutationprofil refers to the set, pattern, and distribution of genetic alterations observed in a cell population, genome, or tissue sample. It encompasses various mutation types such as single-nucleotide variants (SNVs), insertions and deletions (indels), copy number alterations, and structural variants. As a fingerprint of the mutational processes acting on a genome, a mutationprofil can reflect exposure to mutagens, DNA repair defects, and clonal evolution, and it is used to classify samples and study disease etiology.

Generation and representation: A mutationprofil is derived from sequencing data—whole-genome, whole-exome, or targeted panels—processed by variant calling pipelines to identify somatic or germline variants. After filtering and annotation, data are summarized in formats such as mutation lists, matrices, or mutational signatures. Context can include trinucleotide sequence context, functional impact, allele frequency, and clonality estimates.

Applications: In cancer genomics, mutationprofiles help classify tumor types, infer etiologies, identify driver mutations, and track tumor evolution and treatment resistance. They are used to study mutagenic processes through mutational signatures and to compare profiles across samples or cohorts.

Analysis considerations: Comparisons rely on metrics of similarity or distance; dimensionality reduction and clustering reveal subgroups. Signature analysis uses curated catalogs such as COSMIC mutational signatures. Limitations include sequencing depth, tumor purity, intratumoral heterogeneity, and biases in variant calling and annotation.