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The Need for a Human Pangenome Reference Sequence
Abstract
The reference human genome sequence is inarguably the most important and widely used resource in the fields of human genetics and genomics. It has transformed the conduct of biomedical sciences and brought invaluable benefits to the understanding and improvement of human health. However, the commonly used reference sequence has profound limitations, because across much of its span, it represents the sequence of just one human haplotype. This single, monoploid reference structure presents a critical barrier to representing the broad genomic diversity in the human population. In this review, we discuss the modernization of the reference human genome sequence to a more complete reference of human genomic diversity, known as a human pangenome.
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“Eukaryotic pangenomics is growing in popularity, due in part to its potential to reduce reference bias in resequencing projects as compared to single-reference-based approaches 2 .”
From Pangenome graph construction from genome alignments with Minigraph-Cactus (2024) · cites this paper as [2]
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Metadata
- Authors
- Miga, K. H., & Wang, T.
- Affiliations
- UC Santa Cruz Genomics Institute and Department of Biomedical Engineering, University of California, Santa Cruz, California 95064, USA;
- Department of Genetics, Edison Family Center for Genome Sciences and Systems Biology, and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri 63110, USA;
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2021-08-31
- Volume
- 22
- Issue
- 1
- Pages
- 81-102
- ISSN
- 1527-8204
- 1545-293X
- PMC
- PMC8410644
- Cited by
- 137
- References
- 31
- Language
- en
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