fullgenome

Fullgenome refers to the complete sequencing of an organism's genome, encompassing chromosomal, organellar, and, when possible, mitochondrial DNA, as well as the noncoding and regulatory regions that frame gene activity. In practice, a fullgenome assembly aims to reconstruct the entire sequence with high contiguity, though some organisms retain unresolved repetitive regions. The term is often used interchangeably with full genome sequencing or complete genome sequencing, depending on the level of completeness achieved.

Technologies used to generate fullgenomes have evolved from early Sanger sequencing to modern high-throughput methods. Short-read sequencing platforms produce vast numbers of base calls quickly but struggle with repetitive regions, while long-read systems from PacBio and Oxford Nanopore yield longer contigs that facilitate assembly. De novo assembly reconstructs a genome without a reference, whereas reference-guided assembly aligns reads to an existing genome. Hybrid approaches integrate data types to improve contiguity and accuracy, with assembly quality assessed by depth of coverage and metrics such as N50 and BUSCO completeness.

Fullgenome data underpin clinical genomics, population genomics, cancer genomics, and agricultural breeding, as well as fundamental evolutionary and comparative studies. They enable detection of single-nucleotide variants, insertions and deletions, copy-number changes, structural variants, and novel genes. Beyond sequence, annotation assigns functional elements to the genome, supporting downstream analyses and interpretation. Data sharing through public repositories accelerates science and reproducibility.

Challenges include the cost of sequencing, data storage and analysis, and the interpretation of variants in clinical contexts. Repetitive regions, structural complexity, and heterozygosity can hinder assembly. Ethical and privacy considerations arise for human genomes, with ongoing discussions about consent, data access, and benefit sharing. Public resources such as GenBank, EMBL-EBI ENA, and DDBJ archive assembled genomes, raw reads, and metadata, while reference genomes, annotations, and standardized formats (FASTA, FASTQ, VCF) enable broader reuse.