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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 ...
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 first printout of the human reference genome presented as a series of books, displayed at the Wellcome Collection, London. A reference genome (also known as a reference assembly) is a digital nucleic acid sequence database, assembled by scientists as a representative example of the set of genes in one idealized individual organism of a species.
The new human pangenome reference integrates the missing 8% of the human genome sequence, adding over 100 million new bases. It aims to capture more population diversity than the previous reference sequence and is based on 94 high-quality haploid assemblies from individuals with broad genetic diversity.
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.
The GeneLoc suit member presents an integrated human chromosome map, which is very important for designing a custom-made capture chip, based on data integrated by the GeneLoc algorithm. GeneLoc includes further links to GeneCards, NCBI's Human Genome Sequencing, UniGene, and mapping resources. [7] [13]
The Allen Human Brain Atlas was made public in May 2010. It was the first anatomically and genomically comprehensive three-dimensional human brain map. [4] The atlas was created to enhance research in many neuroscience research fields including neuropharmacology, human brain imaging, human genetics, neuroanatomy, genomics and more.