Pan-genomics in the human genome era

Nature Reviews Genetics
Volume 21 Issue 4, April 2020
https://www.nature.com/nrg/volumes/21/issues/4

 

Review Article | 07 February 2020
Pan-genomics in the human genome era
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.
Rachel M. Sherman & Steven L. Salzberg