Genome analysis is the systematic study of an organism's genetic material, encompassing the sequencing, assembly, annotation and comparative interpretation of genomes to characterise genes, regulatory elements and sequence variation. It identifies coding and non-coding regions, detects polymorphisms and mutations, i…
Genome analysis is the systematic study of an organism's genetic material, encompassing the sequencing, assembly, annotation and comparative interpretation of genomes to characterise genes, regulatory elements and sequence variation. It identifies coding and non-coding regions, detects polymorphisms and mutations, infers phylogeny and evolutionary conservation, and links genomic features to phenotype, disease and adaptation. Modern genome analysis is computationally intensive, drawing on bioinformatics for alignment, variant calling, functional prediction and the integration of genomic data with transcriptomic and proteomic information. Research relevant to this area includes bioinformatic analysis of coronary-disease-associated SNPs and genes implicated in atherosclerosis; phylogenetics, protein-domain conservation and gene architecture of the RBM45 gene across Metazoa; the proteomics and bioinformatics status of the Human Proteome Project; immunogenomic approaches for monitoring cancer and infectious disease; label-free proteomic and molecular analysis of a parasitic organism; bioinformatics of metabolomics in type 2 diabetes; and integrated proteomic and genomic techniques for diagnostics and personalised medicine. Studies of signature proteins, epigenetics and nutrition, and gene-architecture conservation further illustrate how sequence-level analysis informs biological interpretation. The field connects genomics, evolutionary biology and bioinformatics, using genome structure and variation to explain gene function, evolutionary relationships and the molecular basis of health and disease across species.
12 peer-reviewed articles, ranked by relevance. Each links to its DOI.
The 12 articles above have been cited 62 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
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