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The Human Genome Project (HGP) was declared complete in April 2003. An initial rough draft of the human genome was available in June 2000 and by February 2001 a working draft had been completed and published followed by the final sequencing mapping of the human genome on 14 April 2003.
The complete human genome (without Y chromosome) was published in 2021, while with Y chromosome in January 2022. [3] [4] [71] In 2023, a draft human pangenome reference was published. [8] It is based on 47 genomes from persons of varied ethnicity. [8] Plans are underway for an improved reference capturing still more biodiversity from a still ...
The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, disease and responses to drugs and environmental factors.
This map provides sequences of known distances apart, which can be used to help with the assembly of sequence reads acquired through shotgun sequencing. [4] The human genome sequence, which was declared complete in 2003, was assembled using both a BAC library and shotgun sequencing. [18] [19]
The human mitochondrial genome (shown at bottom left in the schematic karyogram, to scale compared to the nuclear DNA in terms of base pairs), although this is not included in micrographic karyograms in clinical practice. Its genome is relatively tiny compared to the rest.
In November, Complete Genomics published a peer-reviewed paper in Science demonstrating its ability to sequence a complete human genome for $1,700. [63] [64] In May 2011, Illumina lowered its Full Genome Sequencing service to $5,000 per human genome, or $4,000 if ordering 50 or more. [65]
Genomics is an interdisciplinary field of molecular biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration.
Human Cell Atlas; Content; Description: The Human Cell Atlas is a global consortium that is creating detailed maps of the cells in the human body to transform understanding of health and disease. Organisms: Human: Contact; Primary citation: Regev, Aviv; et al. (Human Cell Atlas Organizing Committee) (2018). "The Human Cell Atlas White Paper".