The interpretation of non-coding variants is more challenging than that of coding variants as less prediction methods and reference data are available. On top of the annotation provided for human and mouse in the Ensembl Regulatory Build, the Ensembl Variant Effect Predictor (VEP) also integrates two other human-specific datasets providing information about how variants can affect gene expression. The plugins, satMutMPRA and FunMotifs, are available for use with command-line VEP. One provides detailed information on the impact on expression of variants in the regulatory regions of disease-associated genes; the other an alternative set of genome-wide transcription factor binding motifs.
Ensembl 97 and Ensembl Genomes 44 have been released! In this release you’ll find many new species, including some hybrid livestock, as well as important changes to gene sets for human and mouse and a new update to the human Regulatory Build.
Read on to explore the full details.
These releases are huge in many respects, so it was difficult to decide which news to put first! Let’s start with some exciting news from our annotators.Continue reading
A brand new regulatory build for the human GRCh38 and GRCh37 assemblies was released in Ensembl 95 earlier this week. The new regulatory build incorporates data for 55 new and 38 updated epigenomes from the ENCODE project. So what are the differences from the previous regulatory build?
Most of the time when we talk about variant annotation, we talk about the effects of variants on genes, but did you know that the VEP can also tell you how variants affect the genomic features that regulate gene expression, such as promoter and enhancers?