DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.

"CONFLICT OF INTERESTS Matthew Hurles is a cofounder, shareholder, and nonexecutive director of Congenica Ltd., a diagnostic software company."

"The authors thank the patients and their families for their permission to include their information in DECIPHER, and all registered DECIPHER users for depositing and seeking consent to share patient data. The authors would also like to thank Graeme Black and Panagiotis Sergouniotis, University of Manchester and Manchester University NHS Foundation Trust, for their invaluable input to the eye HPO phenotype forms. The DECIPHER project was given a favorable NRES REC opinion by Cambridge South (previously Cambridgeshire 4 REC), REC reference 04/MRE05/50, in November 2004. DECIPHER submits annual progress reports to ensure this favorable opinion applies for the duration of the research. DECIPHER is supported by Wellcome funding, grant WT206194. Helen Firth is supported by The Wellcome award WT200990/Z/16/Z Designing, developing, and delivering integrated foundations for genomic medicine. Fiona Cunnigham and Sarah E. Hunt receive funding from the Wellcome Trust (Grant number WT108749/Z/15/Z) and the European Molecular Biology Laboratory. This study was funded in whole, or in part, by the Wellcome Trust [Grant numbers WT206194, WT200990/Z/16/Z, and WT108749/Z/15/Z]. For the purpose of open access, the author has applied a CC BY public copyright licence to any Author Accepted Manuscript version arising from this submission."