NEW YORK – Congenica and Genomenon said today that they have partnered to incorporate Genomenon's Mastermind Genomic Search Engine results into Congenica's clinical decision support platform.
Congenica, based in Cambridge, UK, markets software that enables the analysis and interpretation of genomic data to help healthcare professionals make more rapid and accurate diagnoses.
Under the new partnership, Genomenon's Mastermind Professional Edition software will be available to all Congenica users, including the UK's National Health Service, which uses Congenica as the exclusive decision support platform provider for the NHS Genomic Medicine Service.
Genomenon, based in Ann Arbor, Michigan, said that its Mastermind database has indexed nearly 7 million full-text articles and 500,000 supplemental datasets, and covers more than 4.9 million variants found in the medical literature.
"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," Congenica CEO David Atkins said in a statement. "We believe that our growing number of global users will find a great deal of benefit from having Mastermind available with the Congenica platform."
Congenica said separately that it has also incorporated the Wellcome Sanger Institute's DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) web-based genomic variant database into its clinical decision support product.
DECIPHER provides contextualized and phenotypic information on pseudonymized, plausibly disease-causing variants from more than 33,000 rare-disease patients. Integration of DECIPHER data, containing sequence variants and copy number variants, complements Congenica's existing offering of curated variants to reduce the chance of disease-relevant variants going undetected and improve the assignment of variant pathogenicity to optimize diagnostic yield, the company said.