Human genome

The complete set of genetic material in humans, comprising DNA in nuclear chromosomes and mitochondria. It includes genes and noncoding sequences.

DNA: A molecule that stores hereditary information through sequences of four nucleotide bases. The human genome is made primarily of DNA molecules.
DNA replication: The cellular process that copies DNA before cell division. It duplicates nuclear and mitochondrial genomic DNA.
Human Genome Project: An international research program that produced the first reference sequence of the human genome. It transformed the genome from an unknown sequence into a shared research resource.
Genome sequencing: The determination of the order of DNA bases across a genome or selected genomic regions. Sequencing makes human genomic information measurable and comparable.
Human pangenome: A collection of genomic sequences representing genetic variation across multiple individuals rather than one reference. It addresses the limits of treating a single sequence as representative of humanity.
Chromosome: A DNA molecule packaged with proteins; human nuclear cells usually contain 23 chromosome pairs. Nuclear genomic DNA is organized into chromosomes.
Meiosis: A cell division process that produces reproductive cells with half the usual chromosome number. It reshuffles and passes nuclear genomic material to offspring.
Frederick Sanger: A British biochemist who developed influential methods for determining amino acid and DNA sequences. His DNA sequencing method helped generate early human genomic sequence data.
Genome-wide association study: A study that tests genetic variants across many genomes for association with a trait or disease. These studies link human genomic variation to differences in traits and disease risk.
Reference genome: A curated DNA sequence used as a standard for analyzing and comparing genomic data. Human genome analyses depend on references that omit some forms of variation.

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