Curating the Clinical Genome

22–24 June 2016

Wellcome Genome Campus, Hinxton, UK


We are pleased to announce Curating the Clinical Genome, which aims to
bring the clinical genomics community together to discuss best practices
for the global sharing of genomic data. This is latest in the series of
meetings on this topic, which have focused on the efforts of the ClinGen
and/or DECIPHER consortia. The programme will be of interest to a wide
group of medical genomics researchers, clinicians practising genomic
medicine, companies developing solutions for clinical genomics and
researchers interested in genomic data sharing.

The sharing of genetic data from clinical diagnostic testing is vital for
delivering on the promise of genomic medicine. There are vast amounts of
genetic data generated around the world for clinical diagnostic testing,
but little of these data are shared, often resulting in elevated rates of
under-diagnosis and mis-diagnosis.

Global data sharing is in its infancy, there are significant technical,
scientific, cultural, ethical and legal barriers to sharing more data
more broadly. The growing recognition of the power of global data sharing
has led to major new initiatives being established, typically on a
national or regional scale. This focus of this meeting is to bring
together these initiatives, to develop common standards, share best
practices, integrate the latest research findings and drive patient

This year’s meeting will focus on harnessing patient and population data
for knowledge curation, the use of ‘matchmaking’ to discover new disease
genes, and defining evidence for gene-disease relationships.  There
will be a special session focusing on the how variants are evaluated for
pathogenicity, including a discussion of the guidelines and resources
available to make this more transparent.  We will also explore new
frontiers that are opening up in clinical genomics, from a technical and
ethical perspective.


The conference will start at approximately 12.30 on Wednesday, 22 June
and close at approximately 13.30 on Friday, 24 June 2016.

Scientific sessions

  • Integrating genomics into the practice of medicine
  • Phenotype analysis: harnessing patient and population data
  • Curating gene-disease relationships
  • Supporting variant assessment: resources and guidelines
  • Patient reported data
  • Matchmaking: the user experience
  • New frontiers in clinical genomics

Organisers and speakers

Scientific programme committee
Helen Firth University of Cambridge, UK
Matt Hurles
Wellcome Trust Sanger Institute, UK
Christa Martin
Geisinger Health System, USA
Sharon Plon
Baylor School of Medicine, USA
Heidi Rehm
Harvard Medical School, USA
Joris Vermeesch
K.U.Leuven, Belgium

Confirmed speakers
Euan Ashley Stanford University, USA
Natalie Banner Wellcome Trust, UK
Phil Beales University College London, UK
Florent Colin IGBMC, France
Sarah Elsea Baylor College of Medicine,
Dominic McMullan Birmingham Women’s Hospital, UK
Anna Middleton Wellcome Trust Sanger Institute, UK

Kyle Retterer GeneDx, USA
Mark Robson Memorial Sloan Kettering Cancer Center,
Laura Lyman Rodriguez NHGRI, USA
Ernest Turro University of Cambridge, UK
Michael Simpson Genomics PLC, UK
Christi van Asperen Leiden University Medical Center,
The Netherlands
Caroline Wright Wellcome Trust Sanger Institute,

Conference organiser
Jemma Beard Wellcome Genome Campus, UK

How to apply

Registration Fees:

Student No accommodation £266.00
Student On site twin accommodation £366.00
Student On site single accommodation £428.00
Academic No accommodation £366.00
Academic On site twin accommodation £466.00
Academic On site single accommodation £528.00
Commercial No accommodation £466.00
Commercial On site twin accommodation £566.00
Commercial On site single accommodation £628.00


The registration fee includes entrance to the lectures and poster
sessions, an abstract book, meals (lunch and dinner) and refreshments
during the conference. Breakfast will be provided for delegates who have
booked accommodation.

Registration deadline:

Onsite accommodation and accommodation at the Holiday Inn are no longer
available, please contact the conference organiser to be added to the
waiting list and to receive information on alternative accommodation.

Travel visas
Contact the conference organiser if you require a letter to support a
travel visa application.
Please note: letters will only be provided to confirmed registrants.

Non-European Economic Area or Swiss nationals may be required to have a
visa to enter the UK.
Early application is strongly advised, as this process can take 6-8 weeks
or longer.

Please visit the following websites for further information:
UK Border Agency website:

Information for general visitors and business visitors:


A limited number of registration bursaries are available for PhD students
to attend this conference (up to 50% of the registration fee) from
Wellcome Genome Campus Scientific Conferences.

The following documents will need to be provided:

  • Abstract
  • CV
  • Covering letter
  • Letter from supervisor

To apply, please contact the conference organiser.

Bursary deadline: Closed 


We welcome abstracts from all areas relevant to the main themes of the
meeting, for both oral and poster presentations. Several oral
presentations will be chosen from the abstracts submitted.

Abstracts will only be considered from registered delegates. Please use our online abstract submission system and follow the instructions given to ensure your abstract is submitted correctly. All abstracts must be submitted by the deadline. If you are intending to submit more than one abstract, please contact the conference organiser prior to registration.

The scientific programme committee will assess your abstract after the
deadline has passed and you will be notified whether you have been
selected for an oral or poster presentation.

Poster boards onsite will accommodate 118 cm high by 84 cm wide (A0-
portrait) of printed material. Accepted abstracts will appear in the
conference programme book and poster boards will be allocated at the

Abstract deadline: Closed

Abstract guidelines can be viewedhere.

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