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EMBL scientists co-initiated the reconstruction of the most diverse set of reference human genomes ever assembled. In , the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. The Human Genome Project had taken more than 11 years of work and involved more than 1, scientists from 40 countries. The reference sequence, however, does not represent a single individual but instead is a composite of genomes from several individuals that cannot accurately capture the complexity of human genetic variation. Building on this, scientists have carried out many sequencing projects over the past 20 years to identify and catalogue genetic differences between individual genomes and the reference genome. These differences usually focused on small changes of a single letter of the DNA code and missed larger genetic alterations.
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Human genomes provide new reference for global genetic diversity | EMBL

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Human genomes provide new reference for global genetic diversity

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