We’re pleased to announce the release of Ensembl 99, and the corresponding release of Ensembl Genomes 46. Along with updates of human gene annotation and variation data, we have a menagerie of new and updated vertebrate species in Ensembl plus a whole set of new plants, mosquitos and flies in Ensembl Genomes.
NCBI has announced big changes to how dbSNP manages human variation data, which will be reflected in Ensembl. These changes include a new allele normalisation approach and the removal of some older population genetics data.
One of the biggest headaches when working with insertions and deletions is how many different ways you can represent the same variant. If you’re looking to find out if there’s already known allele frequencies or phenotypes at a locus, you want to make sure that you find the right one. The VEP can take that headache away through normalisation of variants.