Bovine breed-specific augmented reference graphs facilitate accurate sequence read mapping and unbiased variant discovery.

Published in: Genome biology (2020)

We develop the first variation-aware reference graph for an agricultural animal ( https://doi.org/10.5281/zenodo.3759712 ). Our novel reference structure improves sequence read mapping and variant genotyping over the linear reference. Our work is a first step towards the transition from linear to variation-aware reference structures in species with high genetic diversity and many sub-populations.

Keyphrases

genetic diversity
high resolution
high throughput
small molecule
climate change
high density
amino acid
convolutional neural network