Genomstekning

Genomstekning is not a widely standardized term in modern genomics. In Swedish-language or regional sources it can appear as a nonstandard or ambiguous word that may refer to activities related to the genome, most often in the context of sequencing or assembling genetic material. Because it lacks a fixed definition in the peer-reviewed literature, its precise meaning depends on context and usage.

One possible interpretation is that genomstekning denotes genome sequencing or the coverage achieved in sequencing projects. In this sense, it involves determining the order of nucleotides in an organism’s genome using high-throughput technologies, assembling reads into a coherent genome, and assessing coverage depth, read quality, and error rates. Key concepts include coverage depth (for example, 30x or higher), read length, paired-end versus long-read approaches, and metrics such as N50 and consensus accuracy. The goal is to produce a usable genome sequence that supports downstream analyses like variant calling and comparative genomics.

A second interpretation is that genomstekning refers to finishing or completing a genome assembly—closing gaps, resolving ambiguous regions, and improving contiguity and accuracy through additional data and manual curation. This process often combines multiple data types (short and long reads, optical maps, scaffolding) and emphasizes quality control, annotation, and reproducibility.

Because the term is not universally defined, readers should rely on context to determine its intended meaning. See also genomics, genome sequencing, genome assembly, and genome editing.