Diploid, Genomenon Launch Rare Disease Diagnostics Collaboration

February 19, 2019
Diploid, Genomenon Launch Rare Disease Diagnostics Collaboration
Stephen Kingsmore, MD, DSc, president and CEO of Rady Children’s Institute for Genomic Medicine in San Diego, used Diploid's Moon software to establish a new world record for fastest genome interpretation in the NICU. Diploid says its Moon software will integrate Genomenon’s Mastermind Genomic Search Engine, with the goal of improving genome interpretation by giving direct access to Mastermind from Moon's user interface. [Rady Children's Institute for Genomic Medicine]

Diploid announced that its Moon software, which is focused on rare disease diagnostics, will integrate Genomenon’s Mastermind Genomic Search Engine. The companies said the goal is to improve genome interpretation by giving direct access to Mastermind from Moon's user interface.

Moon software—heralded as one of “Five Products Poised to Make an Impact” by Clinical OMICs last year—is designed to provide an efficient workflow for rare disease diagnostics by allowing users to go from VCF to causal variant in minutes by applying advanced machine learning and deep phenotype integration. Diploid says its process is much faster than compared to manually filtering and curating hundreds or thousands of variants.

“Moon returns a very short list of variants that might be relevant for the patient's phenotype: typically about 4-8 variants for exome or whole genome data," Peter Schols, Diploid's founder and CEO, said in a statement.

Added Diploid CSO Cyrielle Kint: “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.”

According to Genomenon, Mastermind is the world’s first search engine to connect genomic data from patients with evidence retrieved from scientific literature. Mastermind is designed to link data on DNA mutations from patients with citations from scientific publications, with the aim of understanding the clinical impact of each mutation.

Mastermind aims to comprehensively identify all clinically relevant and prioritized articles, and contains 6 million full-text scientific articles with information on 6.5 million variants, as well as 29 million titles and abstracts.

The integration of Mastermind is intended to allow Moon users to see which candidate variants are mentioned in relevant publications, Diploid said.

Among users of Moon is Stephen Kingsmore, MD, DSc, president and CEO of Rady Children’s Institute for Genomic Medicine, who used the software to establish a new world record for fastest genome interpretation in the NICU.

Rady researchers on February 3 carried out analysis and interpretation of life-threatening genetic variations in 19.5 hours—breaking the previous speed record of 26 hours set in 2015 by Kingsmore.

Diploid was among Rady’s partners in the record-breaking feat, along with Alexion Pharmaceuticals, Clinithink, Edico Genome, Fabric Genomics, and Illumina.