Navigation Links
Genomenon and Diploid Sign Partnership Agreement to Accelerate Rare Disease Diagnostics
Date:2/19/2019

Diploid, leading AI-based software provider for rare disease diagnostics, and Genomenon®, the genomic search company, announced today that they have entered into a partnership to improve genome interpretation for rare disease diagnostics.

With its Moon software, Diploid provides the most efficient workflow for rare disease diagnostics. Moon allows its users to go from VCF to causal variant in just minutes thanks to advanced machine learning and deep phenotype integration. As a result, the software was selected by Dr. Stephen Kingsmore at Rady Children's Hospital to establish a new world record for fastest genome interpretation in the NICU (Read the Rady story).

"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," says Peter Schols, Diploid's founder and CEO. "This breakthrough saves clinical laboratory scientists a lot of time compared to manually filtering and curating hundreds or even thousands of variants."

Cyrielle Kint, Diploid's CSO, adds: "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, the clear leader in genomic search engines."

Genomenon’s Mastermind® Genomic Search Engine filters and prioritizes millions of genomic articles to find the most useful and meaningful citations, saving scientists hours of literature curation per case and improving the chances of finding key genetic information that could be critical for a patient’s diagnosis.

The new integration allows users to see which candidate variants are mentioned in relevant publications and gives users direct access to Mastermind from Moon's user interface.

"We're thrilled to partner with Diploid to reduce the time needed to identify the cause of genetic illness that can be life-threatening," said Mike Klein, CEO of Genomenon. "With integrated Mastermind search results, Moon users get an immediate view of the literature supporting each variant, and can speed their genomic interpretation for rare diseases.”

Both companies will be demonstrating the integration at the ACMG Annual Clinical Genomics Meeting conference taking place in Seattle, Washington April 2-6, 2019.

About Genomenon
Genomenon powers evidence-based genomics for faster; more comprehensive diagnosis and treatment decisions. Their flagship product, the Mastermind Genomic Search Engine provides immediate insight into the published genomic research for every disease, gene, and variant found in the literature.

Used by hundreds of diagnostic labs around the world, Mastermind accelerates genomic interpretation by providing unique insight into genomic relationships found in the full text of millions of scientific articles.

Pharmaceutical researchers license the Mastermind database for a comprehensive genomic landscape associated with any given disease – to identify and prioritize genomic biomarkers for drug discovery and clinical trial targets. For more information, visit http://www.genomenon.com.

About Diploid
Diploid is on a mission to provide clinical labs, hospitals and nation-wide sequencing programs with the tools to diagnose every rare disease patient. Its Moon platform is the first software worldwide to use artificial intelligence for rare disease diagnostics.

Thanks to its use of advanced machine learning and deep phenotype integration, Moon is now widely recognized as the fastest genome interpretation solution, going from whole genome VCF to diagnosis in minutes.

In addition, Moon's autopilot feature enables unsupervised reanalysis of negative cases, making continuous genome interpretation a reality.

Learn more at http://www.diploid.com/moon.

Read the full story at https://www.prweb.com/releases/genomenon_and_diploid_sign_partnership_agreement_to_accelerate_rare_disease_diagnostics/prweb16109873.htm.


'/>"/>
Source: PRWeb
Copyright©2019 Vocus, Inc.
All rights reserved


Related medicine news :

1. BeachLifestyle and The Total Education Network Announce Their Partnership as the Simply G Media Network
2. Maine Biotechnology Services-USDA-ARS Partnership Provides Monoclonal Antibodies to Aid in the Containment of Rift Valley Fever Virus
3. PolyU Gears Up for Aviation Services Research in Partnership with Boeing
4. Health Data Intelligence Announces Strategic Partnership with Predictive Analytics Technology Leader Analytics Inside
5. Georgetown University 50-State Report Finds More Children Have Health Coverage - Attributes Gains to Successful Federal State Partnership Programs Medicaid and CHIP
6. Progressive Dental Marketing CEO Cites Mutual Benefits of Strategic Referral Partnerships
7. CESI Announces Partnership with Visiting Angels Home Care Agency to Address Financial Needs of A Growing, Aging Population
8. Fertility Centers of New England Announces Partnership with CapexMD Fertility Financing
9. ATCC and Evercyte Form a Partnership to Develop and Distribute Immortalized Human Cells and Cell Lines
10. Telliant Systems Announces Microsoft Gold Partnership in Application Development
11. The Chris Elliott Fund Announces Partnership with Coldwell Banker Bain Agents Anastasia Miles and Michele Schuler in the Fight to End Brain Cancer
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/1/2020)... ... July 01, 2020 , ... Psilera Bioscience ... psychedelics and analogues, announces its core executive team. The co-founders Drs. Jackie Salm ... novel formulations, and as distinguished researchers within the cannabis industry. They are joined ...
(Date:6/28/2020)... ... 26, 2020 , ... PathAI, a global provider of artificial intelligence (AI)-powered technology ... digital scoring of PD-L1 expression to assess response in patients treated with Bristol Myers ... Association for Cancer Research (AACR) Annual Meeting. AACR was held June 22 to June ...
(Date:6/28/2020)... ... June 28, 2020 , ... World Allergy ... World Allergy Week, from June 28 to July 4, 2020, to the importance ... COVID-19, short for “coronavirus disease 2019”, is a disease spreading around the world ...
(Date:6/24/2020)... ... 24, 2020 , ... Dr. Katinka van der Merwe, the creator of the ... the True Grit and Grace podcast. She explains her outside-the-box, holistic approach to treating ... , After being diagnosed with CRPS about 10 years ago, Amberly Lago ...
(Date:6/23/2020)... ... ... Oak Street Health, a network of primary care centers that delivers value-based care to ... company’s first centers in New York and Mississippi anticipated to open later this year. ... in Jackson, Miss. , “The planned opening of our first centers in New ...
Breaking Medicine News(10 mins):
(Date:6/25/2020)... ... June 25, 2020 , ... Air Date: ... https://www.voiceamerica.com/episode/124183/immunity-protector-with-natures-tears-eyemist , “Eyes are our number one sensory input,” says ... Apple iTunes. “Being able to see clearly is being able to receive information ...
(Date:6/24/2020)... ... June 24, 2020 , ... People curious about ... on County Line Chiropractic’s YouTube channel. Dr. Vivian Solivan, one of ... has six locations in the South Florida area, including the Lauderhill office, where ...
(Date:6/23/2020)... , ... June 23, 2020 ... ... or the "Company"), a leading provider of center-based, Applied Behavioral Analysis ("ABA") ... rapidly-growing, center-based ABA provider in the greater-Indianapolis market. This acquisition will make ...
Breaking Medicine Technology: