Selected Grantee Publications

Canine Reference Genome Accuracy Impacts Variant Calling: Lessons Learned from Investigating Embryonic Lethal Variant

Kinsey et al., Animal Genetics. 2022.

https://www.doi.org/10.1111/age.13241

With increasingly affordable whole-genome sequencing, hundreds of canine genomes now can be analyzed for embryonic lethal mutations. Investigators examined whole-genome sequence data from 675 dogs of both sexes to investigate for variants with missing homozygosity and high predicted impact. They identified 45 likely embryonic lethal mutations in 32 genes but found that all but one of those were labeled incorrectly and were artifacts associated with a widely utilized canine reference genome. This effect is a major obstacle to studies focusing on loci with high heterozygosity. The investigators propose that by using newer, multiple reference genomes, researchers could reduce artifacts and identify variants more accurately. Supported by ORIP (K01OD027051, K01OD019912).