Abstract
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Two new reference data sources, Mastermind and DECIPHER, are being added to Congenica's clinical decision support platform for genomic data interpretation. Genomenon's Mastermind has indexed nearly 7 million full text articles and 500,000 supplemental data sets and covers more than 4.9 million variants found in the medical literature. DECIPHER, from the Wellcome Sanger Institute, contains disease-causing variants from more than 33,000 rare disease patients.
“Mastermind brings a new dimension to the Congenica platform, aiding variant interpretation by reducing the manual effort required to curate the rapidly growing body of genomic research, improving the likelihood of finding key genetic insights that could be critical for diagnosis,” said David Atkins, CEO of Congenica. “We believe that our growing number of global users will find a great deal of benefit from having Mastermind available with the Congenica platform.”
DECIPHER, meanwhile, is a scientific and clinical resource widely used by the clinical genetics and research community to help diagnose novel or extremely rare variants. The DECIPHER database has been built by an international community of academic departments of clinical genetics and rare disease genomics that now includes more than 250 projects and more than 19,000 cases.