First complete, gapless sequence of a human genome reveals hidden regions

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Parts of the human genome now available to study for the first time are important for understanding genetic diseases, human diversity, and evolution

Tim Stephens | UCSC | March 31, 2022

The first truly complete sequence of a human genome, covering each chromosome from end to end with no gaps and unprecedented accuracy, is now accessible through the UCSC Genome Browser and is described in six papers published March 31 in Science.

Since the first working draft of a human genome sequence was assembled at UC Santa Cruz in 2000, genomics research has led to enormous advances in our understanding of human biology and disease. Nevertheless, crucial regions accounting for some 8% of the human genome have remained hidden from scientists for over 20 years due to the limitations of DNA sequencing technologies.

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Last modified: Aug 19, 2024