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Genomenon, Diploid Partner to Accelerate Rare Disease Detection

This article has been updated from a previous version to correct the number of variants indexed by Genomenon's Mastermind.

NEW YORK (GenomeWeb) – Genomenon said today that it has partnered with artificial intelligence software firm Diploid to improve genome interpretation for rare disease diagnostics.

As part of the collaboration, Belgium-based Diploid will integrate Genomenon's Mastermind genomic search engine into its Moon diagnostic software.

"We wanted to make the process of evaluating the handful of remaining variants reported by Moon even more efficient, and that's why we are integrating with Genomenon's Mastermind," Diploid's CSO Cyrielle Kint said in a statement.

Genomenon's Mastermind accelerates genomic interpretation data by indexing about 4.1 million genomic variants from supplemental data found in millions of scientific publications. The firm believes the tool can save scientists hours of literature curation and improve the chances of finding key genetic information for patient diagnosis.

"With integrated Mastermind search results, Moon users get an immediate view of the literature  supporting each variant and can speed up their genomic interpretation for rare diseases," Genomenon CEO Mike Klein said in a statement.

Financial details of the agreement were not disclosed.

Genomenon previously announced last month that it had raised $2.5 million in order to expand its reach with clinical diagnostic labs, as well as biotech and pharmaceutical firms.