Life and health

Genome

Genome: the entire set of DNA instructions in a cell; the human genome has about 3 billion nucleotides across 23 chromosome pairs plus mitochondrial DNA. Sequenced by the Human Genome Project (2003, 92%) and completed gap-free by the T2T consortium in 2022.

Genome architecture mapping

Genome architecture mapping (GAM) is a ligation-free method that sequences DNA of thin nuclear cryosections to measure 3D chromatin contacts, including multi-enhancer contacts that Hi-C captures poorly.

Genome editing

Genome editing, also called gene editing, is the targeted alteration of DNA at chosen genome sites using tools from homologous recombination and ZFNs/TALENs to CRISPR-Cas9, base editors, and prime editing, applied in research, agriculture, and approved therapies such as the 2023 FDA sickle cell treatment.

Genome research

Genome Research is a monthly peer-reviewed journal published by Cold Spring Harbor Laboratory Press since August 1995, continuing PCR Methods and Applications; it covers genome structure, function, and evolution in all organisms.

Genome resequencing

Genome resequencing determines an individual organism's genome sequence by aligning reads against a reference genome to identify variants, rather than assembling the genome from scratch de novo.

Genome scan

A genome scan is a genetic mapping method that tests genetic markers across the entire genome, one at a time, to find loci influencing a measurable trait.

Genome Size

Genome size (C-value): the amount of DNA in one copy of a genome, from 2.3 Mbp microsporidians to ~150 Gb in Paris japonica; measured by flow cytometry, unrelated to complexity.

Genome-wide association study

Genome-wide association study (GWAS), whole genome association study: scanning hundreds of thousands of SNPs across many genomes to find variants statistically associated with diseases or traits; first published 2005, curated in the NHGRI-EBI GWAS Catalog.

Genome-wide screening

Genome-wide screening is an experimental approach in which every gene of an organism is perturbed, one per cell, to identify which genes affect a measured phenotype, typically using pooled CRISPR or RNAi libraries.

Genomes OnLine Database

Genomes OnLine Database (GOLD), hosted by the DOE Joint Genome Institute, is a manually curated catalog of worldwide genome and metagenome sequencing projects and metadata, founded in 1997 and organized as Studies, Organisms/Biosamples, Sequencing Projects, and Analysis Projects.

Genomic Encyclopedia of Bacteria and Archaea

The Genomic Encyclopedia of Bacteria and Archaea, or GEBA, is a Department of Energy Joint Genome Institute program sequencing bacterial and archaeal type strains, launched in 2007.

Genomic imprinting

Genomic imprinting, also called genetic imprinting, is parent-of-origin-specific gene expression: one parental allele is silenced by germline epigenetic methylation marks. Discovered in 1984 in mice; causes Prader-Willi, Angelman, and Beckwith-Wiedemann syndromes.

Oct 15, 2026

Genomic instability

Genomic instability is an increased rate at which a cell lineage acquires mutations, chromosomal aberrations, and gene expression changes, studied as a marker of cancer risk.

Genomic library

Genomic library, or gene bank: a collection of cloned DNA fragments representing an organism's entire genome, including introns and regulatory regions, stored in vectors such as plasmids, lambda phage, cosmids, fosmids, and BACs; distinct from cDNA libraries, which hold only expressed genes.

Genomic Medicine

Genomic medicine, also called precision or personalized medicine, is the medical discipline using a person's genomic information for diagnostic and therapeutic decisions; it grew from the Human Genome Project and spans oncology, pharmacogenomics, and rare disease diagnosis.

Genomic organization of snoRNA loci

The genomic organization of snoRNA loci covers how small nucleolar RNA genes are arranged, mostly within host-gene introns in vertebrates or as independent transcription units in yeast.

Genomic selection

Genomic selection is a breeding method that uses thousands of genome-wide DNA markers to predict the genetic merit of animals and plants, choosing the best parents.

Genomics

Genomics: study of an organism's entire DNA (its genome). Term coined 1986 by Thomas Roderick; defined by the Human Genome Project (1990–2003), next-generation sequencing, and the human pangenome reference.

Genotoxicity

Genotoxicity: damage to genetic material by chemical, physical, or biological agents. Assessed via the Ames test, micronucleus, chromosomal aberration, comet, and transgenic rodent OECD test guidelines.

Genotoxicity assay

A genotoxicity assay is a laboratory test that detects whether a chemical damages DNA, causes mutations, or disrupts chromosomes, using bacteria, mammalian cell cultures, or whole animals.

Genotype

Genotype: the specific alleles or DNA sequence variants present at a genomic locus, or an individual's whole genetic makeup. Coined by Wilhelm Johannsen in 1909; contrasted with phenotype, which also depends on environment.

Genotyping

Genotyping, including SNP and blood group genotyping, is a laboratory method that determines which variants of known genetic markers an organism carries at specific loci.

Genotyping array

A genotyping array is a DNA microarray assay that genotypes hundreds of thousands to millions of known variants per sample, underpinning GWAS and biobanks since 2005.

Sep 21, 2026

Genoveffa Franchini

Genoveffa Franchini is an Italian-born hematologist and retrovirologist who heads the Animal Models and Retroviral Vaccines Section at the National Cancer Institute, known for HIV vaccine research.

Gensini score

The Gensini score is an angiographic index quantifying coronary artery disease severity from angiograms, weighting each stenosis by narrowing and segment importance, described by Goffredo Gensini in 1983.

Gentamicin

Gentamicin, an aminoglycoside antibiotic from Micromonospora purpurea discovered in 1963, kills aerobic Gram-negative bacteria via 30S ribosome binding; dosed 5-7 mg/kg daily IV, limited by nephro- and ototoxicity, and currently in shortage in the US and Canada.

Gentiana

Gentiana (gentians) is the largest genus of Gentianaceae, 347-400+ species of blue-flowered herbs of temperate and alpine regions; source of gentian root bitters and iridoid, xanthone, and flavonoid phytochemicals.

Gentiana lutea

Gentiana lutea, yellow gentian or bitterwort, a perennial European mountain herb whose bitter root (Gentianae radix) is used for appetite and digestive complaints, in bitters, and protected under EU Habitats Directive Annex V.

Gentianaceae

Gentianaceae (gentian family), cosmopolitan Gentianales family of about 100 genera and 1,700 species, mostly herbs with tubular contorted corollas, superior ovaries, seco-iridoids, and xanthones; includes Gentiana and Gentianella.