First Publication of the Human Genome (2001)

Today we celebrate the publication of the human genome with an image of the super helix. On 15th February 2001 researchers published the first sequence-based map of large-scale structural variation across the human genome in the journal Nature. Large-scale structural variations are differences in the genome among people that range from a few thousand to a few million DNA bases; some are gains or losses of stretches of genome sequence and others appear as re-arrangements of stretches of sequence. These variations include differences in the number of copies individuals have of a particular gene, deletions, translocations, and inversions…

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