Nature· 2023Q1
A draft human pangenome reference
- 1,166citations
- Q1SCImago
- 2023year
Short summary
The first draft of a human pangenome reference, comprising 47 phased, diploid assemblies from diverse individuals, captures >99% of expected genome sequence with >99% accuracy and adds 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications compared to GRCh38.
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