genomflöde

Genomflöde is a Swedish term that describes the flow of genome-related information through processes, systems, or populations. In the context of sequencing projects, genomflöde refers to the end-to-end pipeline by which biological samples are converted into analyzable genome data. The pipeline typically starts with sample collection and DNA extraction, followed by library preparation, sequencing, base calling, quality control, read alignment to a reference genome, variant calling, annotation, and data storage and sharing. Effective genomflöde management emphasizes traceability, reproducibility, and data integrity, often implemented with workflow management systems and standardized formats such as FASTQ, BAM/CRAM, VCF, and metadata schemas.

In population genetics, a related concept is gene flow, the transfer of genetic material between populations. While not identical, discussions of genomflöde may encompass the movement of whole genomes or genomic segments due to migration, admixture, or breeding, and is analyzed with methods such as ancestry inference, f-statistics, and model-based demography.

Applications include clinical genomics, research, and surveillance, where a well-managed genomflöde supports rapid and reliable analysis, cross-study comparability, and data reuse. Challenges include data privacy, ethical considerations, standardization of pipelines, computational resource needs, and provenance tracking.

See also: genome sequencing, bioinformatics pipeline, data provenance, FAIR data principles, gene flow, population genetics.