Elsevier’s European Journal of Medical Genetics Joins DECIPHER Project to Enhance Exome Data Sharing

Direct linking between exome data in DECIPHER and European Journal of Medical Genetics' Exome Report article

Cambridge, MA, November 17, 2014

Elsevier, a world-leading provider of scientific, technical and medical information products and services, announces the collaboration between the The Wellcome Trust's DECIPHER (DatabasE of GenomiC variants and Phenotype in Humans using Ensemble Resources) and its European Journal of Medical Genetics (EJMG) to share exome data by publishing a new article type: the Exome Report.

DECIPHER, an initiative launched by The Wellcome Trust 10 years ago, is web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. Elsevier's European Journal of Medical Genetics will facilitate advancing the database, and also the knowledgebase of genomic variants, by requiring that authors publishing their work in the journal directly include their exome data in DECIPHER. Authors will do this by means of a newly launched article type in the journal: the Exome Report. These articles serve as a venue to present abnormal exome sequencing from a single patient with associated clinical data. They not only allow for direct data linking with DECIPHER, the published report in turn provides additional context to better interpret data in DECIPHER.

"We welcome all opportunities that enhance the development of new analytical methods to understand patterns of polymorphism and refining critical intervals to map genes involved in specific phenotypes and diseases," says Matt Hurles, Senior Group Leader and PI of the DECIPHER Project at the Wellcome Trust Sanger Institute. "These developments can best excel when data and context are linked and can be accessed seamlessly. We are happy that the collaboration between EJMG and DECIPHER enables this opportunity." 

"Identification of pathogenic genetic variations in developmental disorders remains a challenge. One of the difficulties of diagnostic exome sequencing is that the number of single patients with a clearly defined phenotype in which a likely pathogenic genetic variant is identified is small. Publishing our Exome Reports with a direct link to DECIPHER not only focusses reporting on these limited single patients, but also allows for linking back and forth between context and associated clinical data to allow for best interpretation and opportunities for further development of research in the field."

Authors who would like to publish their work as an Exome Report in EJMG are required to submit an DECIPHER Excel sheet and article simultaneously. For more information go about this process, go to: http://www.journals.elsevier.com/european-journal-of-medical-genetics/


The DatabasE of GenomiC variants and Phenotype in Humans using Ensembl Resources (DECIPHER) was set up in 2004 at the Wellcome Trust Sanger Institute to aid the interpretation of rare pathogenic variation (sequence and copy-number variation). By collating and presenting phenotype-linked variant data (sequence and copy-number variants) obtained in a clinical or research setting, DECIPHER helps maximise chances of the discovery of clusters of patients that share similar genetic findings and phenotype, and encourage collaboration between the 250 clinical and research labs and external users. Nearly 650 publications have resulted as a result of these collaborations and the use of DECIPHER data since 2010.For more information: https://decipher.sanger.ac.uk

About Wellcome Trust Sanger Institute
The Wellcome Trust Sanger Institute is one of the world's leading genome centres. Through its ability to conduct research at scale, it is able to engage in bold and long-term exploratory projects that are designed to influence and empower medical science globally. Institute research findings, generated through its own research programmes and through its leading role in international consortia, are being used to develop new diagnostics and treatments for human disease.

About the European Journal of Medical Genetics 
The European Journal of Medical Genetics (EJMG) is a peer-reviewed e-journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. EJMG publishes original clinical and experimental research articles, clinical reports, short array reports, review articles, Letters and the new Exome Report. For more information, go to: http://www.journals.elsevier.com/european-journal-of-medical-genetics

About Elsevier
Elsevier is a world-leading provider of information solutions that enhance the performance of science, health, and technology professionals, empowering them to make better decisions, deliver better care, and sometimes make groundbreaking discoveries that advance the boundaries of knowledge and human progress. Elsevier provides web-based, digital solutions — among them ScienceDirect, Scopus, Research Intelligence and ClinicalKey— and publishes over 2,500 journals, including The Lancet and Cell, and more than 35,000 book titles, including a number of iconic reference works. Elsevier is part of RELX Group, a world-leading provider of information and analytics for professional and business customers across industries. www.elsevier.com

Media contact
Paige Shaklee
+1 617 397 2882