The DOI matches its Crossref record; 105 of the 105 references it cites were found in a registry or an index.
Pan-genomics in the human genome era
Open accessAbstract
Since the early days of the genome era, the scientific community has relied on a single ‘reference’ genome for each species, which is used as the basis for a wide range of genetic analyses, including studies of variation within and across species. As sequencing costs have dropped, thousands of new genomes have been sequenced, and scientists have come to realize that a single reference genome is inadequate for many purposes. By sampling a diverse set of individuals, one can begin to assemble a pan-genome: a collection of all the DNA sequences that occur in a species. Here we review efforts to create pan-genomes for a range of species, from bacteria to humans, and we further consider the computational methods that have been proposed in order to capture, interpret and compare pan-genome data. As scientists continue to survey and catalogue the genomic variation across human populations and begin to assemble a human pan-genome, these efforts will increase our power to connect variation to human diversity, disease and beyond. Although single reference genomes are valuable resources, they do not capture genetic diversity among individuals. Sherman and Salzberg discuss the concept of ‘pan-genomes’, which are reference genomes that encompass the genetic variation within a given species. Focusing particularly on large eukaryotic pan-genomes, they describe the latest progress, the varied methodological approaches and computational challenges, as well as applications in fields such as agriculture and human disease.
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Cited by
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Metadata
- Authors
- Sherman, R. M., & Salzberg, S. L.
- Venue
- Nature Reviews Genetics
- Published
- 2020-02-07
- Volume
- 21
- Issue
- 4
- Pages
- 243-254
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W3005228641
- Cited by
- 359
- References
- 105
- FWCI
- 3.54
- Type
- journal article
- Language
- en
- Open access
- green
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