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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Key points
- A draft human pangenome reference includes 47 phased, diploid assemblies from genetically diverse individuals.
- The pangenome covers >99% of expected genome sequence with >99% accuracy at base pair and structural levels.
- It adds 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to GRCh38.
- Analysis using the draft pangenome reduced small variant discovery errors by 34% and increased structural variant detection by 104% compared to GRCh38 workflows.
AI-generated from the title and abstract; the full text is not read.
Abstract
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals 1 . These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample.
The authors' abstract, as published at the source. Nature, 2023 · DOI ↗
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