What we’re up to at ASHG 2017

We’re really excited to be a part of the ASHG conference again, this time in Orlando from the 17th-21st October. We can’t wait to see all the great science that’s going to be presented, but here’s a guide to the talks, workshops and posters from Ensembl and some of our close friends:

HGVS Satellite Meeting: Methods and Tools for Assessing the Impact of Genetic Variations

Tuesday 17th October 12:55pm-1:10pm, Lake Nona Room, Lobby Level, Hilton Orlando

Ben Moore, from the Ensembl outreach team, will be presenting a short talk at the HGVS: Methods and Tools for Assessing the Impact of Genetic Variations satellite meeting on Tuesday 17th October. This is a separate event to ASHG, and requires its own registration.

The Ensembl talk will cover some of the latest developments about the Variant Effect Predictor (VEP), a tool for predicting the functional consequences of variants.

You can find the talk in the meeting schedule.

Interactive Invited Workshop: Accessing the Breadth of Data in Ensembl: A Worked Clinical Example

Wednesday 18th October 7:15am-8:45am, Hilton Orlando Hotel, Orange Ballroom FG, Lower level

This Ensembl workshop is organised and will be presented by Ben Moore from the Ensembl outreach team. This is a ticketed event, and is aimed at attendees who are new to Ensembl or have a small amount of experience using our browser, including wet-lab biologists and clinicians.
The workshop will start with a brief introduction to the Ensembl project and genome browser, followed by a hands-on demonstration to teach you how to:
  • retrieve a list of genes that fall in a clinically relevant genomic region
  • investigate a single gene that falls in the region of interest, to find gene sequence, predicted homologues, variants and expression data
  • explore information for a single variant from within the gene to find population frequencies and phenotype associations

You can find more information about the workshop location and timings on the ASHG programme. If you have any questions or want to talk about Ensembl, you can e-mail the Ensembl Helpdesk to arrange a time to meet, tweet us or simply come by and meet us after the workshop.

Poster Sessions

Our friends, Jane Loveland from the GENCODE gene annotation project, Jackie MacArthur from the GWAS catalog and Susan Fairley from IGSR, will be presenting their work at the ASHG poster sessions. You can find their poster titles, numbers and presenting times below:

  • Jane will be presenting a poster (422T) about ‘Extending and improving GENCODE gene annotation‘. Jane will be presenting her poster during the poster session on Thursday 19th October at 3pm-4pm in the Exhibit Hall, Level 1.
  • Susan will be presenting a poster (1331T) about how the 1000 Genomes Project data and other variation data can be accessed via the International Genome Sample Resource (IGSR). Susan will be presenting her poster on Thursday 19th October at 2pm-3pm in the Exhibit Hall, Level 1.
  • Jackie will be presenting a poster about the steps the GWAS Catalog are taking to prioritise the addition of studies to the GWAS Catalog. The volume of GWAS Catalog eligible data continues to increase and promises to increase further with extensions to the scope of the GWAS Catalog. Jackie’s team are therefore investigating ways to focus curation resources on data with the highest utility to users. To find out what criteria users consider when assessing the value of a GWAS, they are carrying out a survey, which will help prioritise studies in the curation queue according to user needs. You can find out more about the survey at Jackie’s poster – number 1310T and you can come and talk to her between 3pm-4pm on Thursday 19th October in the Exhibit Hall, Level 1.

Looking forward to seeing you all there!