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Nature· 2023Q1

A draft human pangenome reference

Wen‐Wei Liao, Mobin Asri, Jana Ebler, Daniel Doerr et al.

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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Field: Cellular and Molecular Neuroscience

Cellular and Molecular NeuroscienceNeuroscience