Sekvensera

Sekvensera is the process of determining the order of nucleotides in a DNA or RNA molecule. In biology, sequencing reveals the genetic information carried by an organism or sample, enabling analysis of genes, regulatory regions, and genome structure. The term is commonly used in Swedish and Finnish contexts as the verb form of sequence, and it has been adopted internationally as sequencing becomes central to genomics, medicine, and biotechnology.

Historically, sequencing began with Sanger sequencing in the late 1970s, a method that produced high-accuracy reads but is limited to relatively short fragments. The development of next-generation sequencing (NGS) in the 2000s dramatically increased throughput and reduced costs, enabling whole-genome and whole-transcriptome projects. More recently, third-generation technologies such as long-read platforms (for example, PacBio and Oxford Nanopore) provide longer reads that improve assembly and detection of complex regions.

Conceptual workflow typically includes sample preparation, library construction, and the sequencing run, followed by computational analysis. Outputs are usually in the form of reads stored in formats such as FASTQ or FASTA. Data analysis involves quality control, assembly or alignment to a reference genome, and variant calling or annotation. Specialized sequencing approaches include RNA sequencing (RNA-seq), metagenomics, and single-cell sequencing, each tailored to different biological questions.

Applications of sekvensera span basic research, clinical diagnostics, evolutionary biology, agriculture, and forensics. Challenges include managing large data volumes, ensuring accuracy across repetitive or GC-rich regions, and interpreting variants. Ongoing advances aim to improve speed, accuracy, read length, and accessibility for broader use.