January 6, 2014
Interpreting rare or novel genomic variants is a major challenge that is increasing as clinical teams change their focus from individual genes, to gene panels and/or whole exome/genome sequencing. Sharing data on phenotype, genotype and inheritance is crucially important to develop the evidence base required for accurate interpretation of rare variants and to facilitate new gene discovery. In many cases, the data needed to interpret a variant will not be found within a single clinical center, and so sharing data between clinical centers is critical for delivering diagnoses. To enable this data sharing, the Wellcome Trust funded DECIPHER web portal, allows clinical teams and researchers to deposit minimal genetic and phenotypic data, and share these data globally. DECIPHER’s initial mission was focused on the interpretation of copy number variations discovered in clinical microarray testing, but has now broadened to the full spectrum of sequence and structural variants that can be revealed by capillary or next generation sequencing (genes, panels, exomes, or genomes). DECIPHER is inviting stakeholders to consider whether their membership might benefit from depositing data in DECIPHER. Over 200 clinical genetic centers world-wide already deposit data in DECIPHER. Over the past 5 years, more than 500 research publications have used and cited DECIPHER as enabling their research, with over 95% of these publications having no DECIPHER co-authors. DECIPHER already includes published de novo mutations on over 1,000 patients. The opportunity to find a match with data already in DECIPHER is high. DECIPHER is charitably funded by the Wellcome Trust, and over the past 9 years, it has earned the trust of clinicians and researchers depositing valuable patient data. To find out more about DECIPHER, you can download an introductory presentation here. Please email firstname.lastname@example.org with any queries you might have.