Ensembl 83 is scheduled for December 2015 and includes:

Updated gene sets and annotations

  • Human: gene set updated to GENCODE 24, and new assembly patches (GRCh38.p5)
  • Mouse: updated to GENCODE M8 annotation
  • Rat: updated gene set, including manually annotated HAVANA annotation

Variation data imports and updates

  • Phenotype data updated for several species including human, mouse, rat, horse and turkey
  • New human phenotype association data from Cancer Gene Census
  • New and updated studies from DGVa for several species such as human, mouse, macaque, cow and dog
  • Latest sequence variants from dbSNP build 145 for chicken and pig
  • New “ExAC” evidence, variation set and track
  • dbSNP rsIDs now available for gibbon

Other highlights and data sets

  • RefSeq genomic to mRNA comparison attributes will be updated for human
  • Improved image export
  • GFF3 support for userdata
  • Annotations in RDF format for all species

 

For more details on the declared intentions, please visit our Ensembl admin site. Please note that these are intentions and are not guaranteed to make it into the release.

The second update of the GRCh37 archive site has now been released. Some of the data imports and updates for this release include:

  • dbSNP144 human data including data from the Exome Aggregation Consortium (ExAC)
  • Public HGMD data (version 2015.2)
  • Phenotype data from NHGRI-EBI GWAS, OMIM, ClinVar, UniProt, Orphanet and Decipher
  • Exome Sequencing Project data (v.0.0.30. (Nov. 3, 2014))
  • HumanCoreExome-12 chip
  • Gene annotation dumps in GFF3 format

We have re-built the GRCh37 dedicated Ensembl, Regulation and Variation BioMarts to integrate the updated data sets.

You will find a complete list of the changes on the Ensembl GRCh37 website.

Ensembl 82 is scheduled for September 2015 and includes:

Updated gene sets and annotations

  • Human variation data updates to dbSNP (144) including variants from the Exome Aggregation Consortium (ExAC)
  • Mouse: updated to GENCODE M7 annotation
  • Zebrafish: RNASeq data from developmental stages

Other highlights and data sets

  • Extra functionality for the VEP web and REST interfaces (via plugins)
  • Phenotype data updated for several species, including human, mouse, rat and horse
  • HGMD (version 2015.2), and NHLBI Exome Sequencing Project data, HumanCoreExome-12 chip variants
  • Improved data upload web form

Second update to the GRCh37 site

This release will also see a fresh update to our dedicated GRCh37 site (grch37.ensembl.org) with:

  • Variant data from dbSNP144 which includes variants from the Exome Aggregation Consortium (ExAC)
  • Updated variants from NHLBI Exome Sequencing Project and HGMD (2015.2)
  • Phenotype data from NHGRI-EBI GWAS, OMIM, ClinVar, UniProt, Orphanet and Decipher
  • Variants from the HumanCoreExome-12 chip

For more details on the declared intentions, please visit our Ensembl admin site. Please note that these are intentions and are not guaranteed to make it into the release.

Ensembl 81 is scheduled for July 2015. Highlights include:

Updated gene sets and annotations

  • Human: updated to GENCODE 23 including manually annotated HAVANA annotation, with the new assembly patches (GRCh38.p3)
  • Mouse: updated to GENCODE M6 including HAVANA annotation with the new assembly patched (GRCm38.p4)
  • Sheep: updated gene set including lincRNA genes

Other highlights and data sets

  • Phenotype data updated for several species, including human, mouse, sheep and chicken
  • New mouse regulatory build
  • Genomic alignements of mouse BAC and FOSMID clones
  • Annotations in GFF3 format for all species

For more details on the declared intentions, please visit our Ensembl admin site. Please note that these are intentions and are not guaranteed to make it into the release.

Annotation of the recent human assembly, GRCh38, was released in e76 in August 2014. Since then we have been maintaining a dedicated site to the GRCh37 assembly. The reason for updating annotations on the previous human assembly is to support those users who may still have data annotated on the old assembly, and who can not yet run their analyses on the new assembly. The Genome Reference Consortium (GRC) keeps a blog on the assemblies that they maintain which may be a good source of information if you are still contemplating a move to GRCh38. If you are wondering about the migration from GRCh37 to GRCh38 within Ensembl, we published a blog series which may be of interest.

We are now pleased to announce that the GRCh37 archive site has been updated with new human data sets. In addition to data imports, we have also utilised the improved regulatory build pipeline for mapping all available human regulatory features to the GRCh37 assembly. We have also re-built the GRCh37 Ensembl, Regulation and Variation BioMarts to integrate the updated data sets.

Highlights from some of the data imports for this release are:

  • Genotypes from 1000 Genomes Phase 3
  • dbSNP142 human data
  • Latest release of public HGMD data (version 2014.4)
  • COSMIC version 71
  • RefSeq GFF3 annotation

A complete list of the changes can be found on the Ensembl GRCh37 website.

What’s new in e79:

Human update

The human gene set now corresponds to GENCODE 22 while the assembly has been updated to include new assembly patches for GRCh38.p2.

Corrected RYBP gene in GRCh38.p2 assembly

The HG-126 patch (KN538364.1) in GRCh38.p2 corrects a misassembly in this region which affects the RYBP gene.

Comparison of human RefSeq transcripts to Ensembl models

In this release we provide comparisons between the imported RefSeq transcripts in human to all overlapping Ensembl models. The comparison is done at the transcript level where all exons are compared in terms of genomic coordinates and the transcript sequences of the two models are also compared. Additionally, we have also compared the genomic sequences of the RefSeq transcripts to the Ensembl models. Both of these data sets are available via our API.

Gene gain/loss tree view

It is now possible to view the Gene gain/loss tree with our new interactive view (which uses the same engine as the species tree view introduced last release). Click on the toolbar to change the layout of the tree or on a node to get its details and expand, collapse, or focus on it.

cafe_tree_new_widget

Global Alliance REST Endpoints

Our REST server now implements the Global Alliance for Genomics and Health (GA4GH) Genomics API. The aim of the GA4GH API is to allow the interoperable exchange of genomic information across multiple organisations and on multiple platforms – see http://ga4gh.org/#/api for further details. Phase 3 genotype data from the 1000 Genomes project is now available from Ensembl via three new GA4GH endpoints.

Import of NextGen project sheep genotype data

Genotype data for three sheep species have been imported from the NextGen project. The project aims to preserve the biodiversity of farm animals. The imported populations are Iranian Ovis aries and Ovis orientalis and Moroccan Ovis aries. You can read more about other NextGen data set on the Ensembl projects.

Other news

  • Updated human HAVANA annotation in Vega
  • Import of phenotype and disease data from the Rat Genome Database (RGD)
  • RefSeq GFF3 annotations for majority of Ensembl species
  • Addition of non-coding genes to the vervet-AGM gene set
  • Updated APPRIS flags for human, mouse, rat, zebrafish with addition of pig
  • Assembly and gene set update for Drosophila to BDGP6 (FB2014_05)

A complete list of the changes can be found on the Ensembl website.

Find out more at the Ensembl Release Webinar e79 (16.00 GMT, Thursday 26th March). Register here (for free!).

What’s new in e78:

  • Instant VEP: immediate answers for a single variant (All species)
  • Mouse: genes updated to GENCODE M4, and new assembly patches (GRCm38.p3).
  • Transcript Support Levels (TSLs), APPRIS principal isoforms and GENCODE basic annotations are now accessible through Ensembl BioMart (Human, mouse, rat and zebrafish).
  • Find Gene Alleles across patches and haplotypes (Human)
  • Interactive species tree (All species)
  • Improved Gene Tree export (All species)

Instant VEP

Screen Shot 2014-12-01 at 11.21.51

It is now possible to get instant VEP results for single variant queries; simply paste a variant in any format into the box and click the button. For more detailed results you can still submit the request in the usual manner.

Mouse update

The mouse genome assembly has been updated to include new assembly patches for GRCm38.p3. We are now displaying GENCODE M4 in Ensembl.

This new assembly patch, KB469738.2 (MG132_PATCH), provides a fix for chromosome 9 where the gene Ppp2r3d was in the incorrect orientation.

This new assembly patch, KB469738.2 (MG132_PATCH), provides a fix for chromosome 9 for genes Nlrp4g and Ppp2r3d.

APPRIS flags for human, mouse, rat and zebrafish

Rat Kiss1 gene

We have updated the APPRIS flags for human and mouse and also imported the data for rat and zebrafish. APPRIS, a system for annotating principal coding isoforms, is a joint project between Centro Nacional de Investigaciones Oncologicas and Instituto Nacional de Bioinformatica.  These are now available in BioMart.

Finding gene alleles

The human and mouse genome assemblies comprise haplotypes (eg. MHC, LRC) and other alternate sequences where the same gene may be annotated in more than one of the alternate sequences. The gene summary page has now been improved to display all manually annotated alternative alleles for a gene. This is available from the left-hand side menu under ‘Gene alleles’.

Alternate alleles for GNL1 (ENSG00000206412) can be compared by clicking the Region Comparison link.

Interactive species tree

It is now possible to view the Ensembl species tree with our new interactive view. Once on the Species tree page, click the link “View the full Ensembl species tree”. You can select between Ensembl and NCBI taxonomy trees, and choose to view only a subset of species at a time.

Screen Shot 2014-12-01 at 14.46.35

Export of comparative genomics views

Export options for the comparative genomics views have undergone major changes in recent releases and in e78 we have finalised this work. The GeneTrees can now be exported in multiple formats. This option is available dirctly by the GeneTree image, replacing the ‘Gene tree (text)’ and ‘Gene tree (alignment)’ options. Orthologues and paralogues can be downloaded only in OrthXML format while gene gain/loss trees can be downloaded in PhyloXML format.

Available options for exporting GeneTrees.

Other news

  • Updated pig HAVANA annotation in Vega.
  • Updated C. elegans annotation (WS245).
  • Updated data from the Animal QTL database for chicken, cow, horse, pig and sheep.
  • RNASeq data can now be displayed as BigWig tracks, which will enable faster rendering of these data.

A complete list of the changes can be found on the Ensembl website.

Find out more at the Ensembl Release Webinar e78 (Wednesday, 17 Dec 4-4:30 GMT). Register here (for free!): http://tinyurl.com/e78-webinar.

Ensembl 78 is scheduled for December 2014. Highlights include:

Updated gene sets and annotations

  • Mouse: updated to GENCODE M4 including manually annotated HAVANA annotation, with new assembly patches (GRCm38.p3).
  • Updated pig HAVANA annotation in Vega.
  • Updated C. elegans annotation (WS245).

Other highlights and data sets

  • Human and mouse Transcript Support Levels (TSLs) accessible through Ensembl BioMart.
  • APPRIS (a system for annotating alternative splice isoforms) flags imported from CNIO available now for human, mouse, rat and zebrafish.
  • New Gene gain/loss tree view.
  • Update data from the Animal QTL database for chicken, cow, horse, pig and sheep.
  • Gene Summary page will display all versions of the gene:

    Alternate alleles for GNL1 (ENSG00000206412) can be compared by clicking the Region Comparison link.

    Alternate alleles for GNL1 (ENSG00000206412) can be compared by clicking the Region Comparison link.

For more details on the declared intentions, please visit our Ensembl admin site. Please note that these are intentions and are not guaranteed to make it into the release.

Ensembl 77 is scheduled for release in October 2014. Highlights for the coming release include:

Updated gene sets and annotations

  • GENCODE 21 release of human including HAVANA manual annotation
  • Updated rat gene set including manual annotation from HAVANA
  • Updated Amazon molly gene set

New species (with RNASeq data)

  • Vervet monkey/African green monkey (ChlSab1.1)Chlorocebus_sabaeus

Other features and data sets

  • Transcript Support Levels (TSLs) imported from UCSC. TSLs for human will be based on the GENCODE 20 gene set and TSLs for mouse will be based on the GENCODE M2 gene set. Transcript Support Level is a method to highlight the well-supported and poorly-supported transcript models for users.
  • BigBed file for the human Age of Base track.
  • Data matrix configuration extended to all species with RNASeq data.

For more details on the declared intentions, please visit our Ensembl admin site. Please note that these are intentions and are not guaranteed to make it into the release.