Genomes for all

The notion that the genetic inheritance of any species can be described as a single sequence has always been a convenient simplification. Most reference genomes are derived from only one or a small number of individuals, and diploid or polyploid species are typically represented as consensus haploid sequences or sequences with reduced heterozygosity produced by inbreeding. For the human genome, the current haploid reference assembly is based on DNA from only ∼50 people, with ∼70% of the sequence coming from just one of those genomes. Thus, it is missing most of the variation that defines the genetic identity of individuals, including variants with clinical relevance and regions of high diversity. In this issue, Garrison et al.1 take an important step toward addressing this deficiency with an approach that represents genetic variation and sequence assembly in a single graph structure. The variation graph (vg) approach promises to transform our ability to account for complex genetic variation across populations.See it on Scoop.it, via Viruses, Immunology & Bioinformatics from Virology.uvic.ca
Genomes for all
Source: Viral Bioinformatics