Helgenom

Helgenom, or the whole genome, is the complete DNA sequence of an organism’s nuclear genome, together with any organellar genomes typically sequenced in the same project. It includes gene-containing regions, regulatory elements, and vast stretches of non-coding DNA. A helgenom serves as a reference to study genetic variation, evolution, and function.

Generation and analysis: The modern helgenom is produced through genome sequencing and assembly. Short-read sequencing (e.g., Illumina) provides high coverage, while long-read technologies (PacBio, Oxford Nanopore) help resolve repeats and structural variation. The assembly process yields a reference genome, which is then annotated to identify genes, transcripts, regulatory elements, repeats, and other features. Quality metrics such as contiguity and completeness assess the assembly.

Applications: The helgenome underpins comparative genomics, studies of population diversity (SNPs, indels, structural variants), and functional genomics. In medicine, it enables rare-disease diagnosis, pharmacogenomics, and research into complex diseases. In agriculture and conservation, it supports breeding, crop improvement, and species management.

Data and ethics: Helgenom data are deposited in public databases (for example, GenBank, ENA, DDBJ) and may be shared under controlled access for privacy-protected human data. Ethical considerations include consent, privacy, and responsible use, particularly for human genomes. The field is moving toward pan-genomes and graph-based representations to capture diversity across populations rather than a single linear reference.