Moon autonomously diagnoses rare diseases within minutes

LEUVEN, Belgium — May 23, 2017 — Diploid, a Leuven-based genomics startup, announces the release of Moon, the first software package that autonomously diagnoses rare diseases using artificial intelligence. Moon reduces the time for genome interpretation from hours or days to mere minutes, making it the world’s fastest software for rare disease diagnostics. Moon has been tested by the University of Antwerp (UZA) in Belgium and by the National Institutes of Health (NIH) in Bethesda, USA.

Faster than geneticists

Moon was used to analyse cases that had been previously diagnosed by highly skilled geneticists. In 90% of these patients, Moon comes up with the correct diagnosis and in 97% of the patients, the disease causing variant is in the top 3 of Moon's list of candidate variants. In addition, Moon managed to reach a diagnosis for patients who remained undiagnosed after manual interpretation.

Overall, the diagnostic yield is on a par with the work of an expert geneticist, while the processing time is significantly shorter. The software only requires the input of the patient’s symptoms, age, gender, and sequencing data (WES or WGS). Using proprietary artificial intelligence algorithms, Moon generates a diagnosis within 3 minutes. Peter Schols, CEO and founder of Diploid, says: “The fact that Moon can go from genetic data (VCF) to a diagnosis in mere minutes, instead of hours or days, enables next generation sequencing to be used in new domains. For example, for infants with genetic diseases in emergency care units, a fast diagnosis can make the difference between life and death.”

Infinite interpretation

Moon can operate fully unsupervised and is always up to date with the latest genetic discoveries. This allows for fast and affordable re-analysis of sequencing data from undiagnosed patients on a monthly or even weekly basis.

Prof. Geert Mortier, chairman of the Department of Medical Genetics at Antwerp University Hospitals, one of the early beta testers of Moon, said: “The proof of the pudding is in the eating: we’ve sent solved cases to test the software and in each case the causal mutation was found in no time.”

Diploid is targeting bioinformatics companies who will be able to embed Moon into their existing variant analysis software, to add intelligence to their current diagnostic processes. Hardware companies looking to integrate NGS interpretation software into their products can also use Moon. Other potential customers include large-scale genome centres and country-wide genome programmes interested in integrating Moon’s analytical power into their existing pipelines.

Links
Website: http://www.diploid.com/moon

Press Contact
Dr. Peter Schols
pr@diploid.com
http://www.diploid.com
+1 855-855-6501 (US toll free number)

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Diploid guarantees rare disease diagnosis

LEUVEN, Belgium — February 25, 2016 — Diploid today announces 'Diagnosed', a new clinical interpretation service for rare disease diagnostics. The service - based on WGS-data - guarantees a genetic diagnosis in the areas of intellectual disability, dysmorphisms, metabolic conditions, blindness and deafness. If no plausible SNP or structural variant can be reported, Diploid will not charge anything for its genome interpretation work.

"Next Monday is International Rare Disease Day," says Peter Schols, Diploid’s founder and CEO. "This reminds us of the fact that millions of patients worldwide are currently undiagnosed: the genetic defect underlying their condition remains unknown. This is an enormous burden on patients and their families, and prevents effective treatment, if available. Our company’s mission is to end these diagnostic odysseys by offering hospitals and labs the ultimate diagnostic analysis."

"Sequencing labs are currently offering whole genome sequencing for $1,200 - $1,600. Combined with our $699 interpretation service, patients can now be whole genome sequenced and diagnosed for under $2,000."

In addition to its award-winning pipeline for SNP analysis, Diploid now added a cutting-edge system for copy number variation (CNV) detection based on NGS data. The new platform is about 80x more sensitive than traditional arrayCGH tests, while being more cost-effective.

Diploid focuses on genome interpretation, not on the sequencing itself, allowing hospitals and labs to submit existing WGS data for which previous analyses came back negative. Clients can upload data generated on Illumina sequencers to Diploid's HIPAA-compliant cloud platform. Within 14 business days, Diploid will return a report discussing suspected causal variants. Every report is signed by an MD with a PhD in medical genetics, as well as by a clinical geneticist. If no plausible variants can be reported, Diploid will offer the analysis for free.

Links
Website: http://www.diploid.com/diagnosed

Press Contact
Dr. Peter Schols
pr@diploid.com
http://www.diploid.com
+1 855-855-6501 (US toll free number)

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Sengenics and Diploid Sign Exclusive Agreement to Streamline Clinical Exome Sequencing in the Middle East

Brunei, September 18, 2015 – Sengenics today announced an exclusive partnership with Diploid, a Belgium-based Human Genome Interpretation service provider to enable more streamlined Clinical Exome and Genome sequencing in the Middle East and GCC countries. Key areas of collaboration include clinical exome and whole genome sequencing, cross-leveraging proprietary mutation databases and clinical interpretation by a panel of clinical geneticists.

Diploid’s CEO, Dr Peter Schols said “Sengenics has performed the highest number of genomics tests on children with developmental delay in Asia and the Middle-East to date, which has led to the development of their GalaxC™ database of Asian human disease mutations. We believe Sengenics experience coupled with Diploid’s advanced analysis and interpretation pipeline will benefit our current and future customers who mainly consist of clinicians who utilise exome sequencing for improving the accuracy of diagnosis. This integrated solution will be mutually advantageous in assisting both companies to work alongside doctors to enhance management of debilitating genetic disorders in the region.”

Sengenics and Diploid are also launching their new Exomax™ clinical exome sequencing services which offer enhanced coverage and fast turnaround options. Exomax™-Plus has a coverage that is nearly twice as high as standard exome capture methods. It includes additional exons, genes and UTRs. Whereas, Exomax-Rapid provides a shorter turnaround at just 20 working days. Both Exomax options are offered at 30-40% lower in cost than the closest accredited competitor, which allows healthcare professionals to offer diagnoses and disease management in a timely fashion to more patients that really need it.

In addition, from January 2016, Sengenics Exomax™ service will come with a free user license to GalaxC™ for referring physicians. GalaxC™ is a proprietary Allele Frequency Database with more than 6.5 million unique Asian and Middle East pathogenic mutations and variants. It is designed to provide accurate clinical genomics information to physicians dealing with patients with inherited genetic diseases. Exomax™ is the only clinical exome service that leverages the GalaxC™ allele frequency database to rule in pathogenic mutations and rule out population-based polymorphisms. This results in increased accuracy and diagnostic yield, and reduced false positives. Diploid and Sengenics will collaborate to widen the usage of the GalaxC™ database throughout the region.

Dr Stephen Moss, Head of Bioinformatics at Sengenics said “We are very much looking forward to merging our expertise, scalability and ideas with Diploid since their clinical genome interpretation service is among the best in the world. We have now worked together on over a thousand cases, of which the majority have been shown to be clinically valid. This is a powerful validation of Diploid’s informatics methodology and clinical expertise.”

About Sengenics

Sengenics is a genomics and proteomics-based research and diagnostics company, with a range of patented technologies and products that are marketed to pharmaceutical companies, scientists and hospitals. Its flagship technology is the patented Immunome™ auto-antibody profiling platform which was spun out from research that was commercialised as a joint collaboration between the University of Oxford and the University of Cambridge in 1996. It also has additional patented and proprietary products for Human diseases that use the ThalaSURE™ and Genoverse™ brand names. To date Sengenics has carried out the highest number of clinical genomics tests on children with developmental delay in Asia. This has been commercialised into GalaxC™, which is the largest commercial database of human disease mutations in Asia. GalaxC™ can be accessed free of charge by existing customers.

About Diploid

Diploid provides clinical exome and whole genome interpretation services and is based in Leuven, Belgium. Diploid is one of the few companies selected by Genomics England to provide interpretation of the 100,000 genomes that will be sequenced for the UK 100,000 genomes project. The company offers its human genome interpretation service to hospitals, commercial labs and private research labs in Europe, Asia and the USA.

Links
Website: http://www.diploid.com/

Press Contact
Dr. Peter Schols
pr@diploid.com
http://www.diploid.com
+1 855-855-6501 (US toll free number)

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Differ: a free and friendly VCF viewer for OS X

LEUVEN, Belgium — February 4, 2015 — Today, Diploid announces Differ, a free application for OS X that allows geneticist to view, search, split or merge VCF files in a user friendly way.

“VCF has become the de facto standard for storing and exchanging variant data” says Dr. Peter Schols, Diploid's CEO. Nevertheless, few good tools exist to view, search, split or merge VCF files. Geneticists either rely on text editors, which are hardly designed for the job and are often too slow to handle gigabyte VCF files, or use command line tools, which are faster but cumbersome and hard to use.

With Differ, Diploid wants to offer the best of both worlds. The application has a friendly user interface that allows geneticist to directly inspect variants, using an inspector pane. Instead of 0/1, the genotype is directly displayed, making quick inspection much easier. In addition, Differ is faster than grep or other command line tools. It uses all available processor cores on the Mac to offer the fastest VCF searching on the planet. Moreover, Differ also allows for easy VCF splitting and merging. If the VCF file has been annotated with SnpEff, Differ automatically displays these annotations.

Differ's first beta version is available as a free download from the Diploid website. The software requires OS X Yosemite. Diploid encourages beta users to send feedback in order to improve the application.

Links
Website: http://www.diploid.com/differ

Press Contact
Dr. Peter Schols
pr@diploid.com
http://www.diploid.com
+1 855-855-6501 (US toll free number)

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Diploid selected in Genomics England’s annotation assessment

LEUVEN, Belgium — October 14, 2014 — Genomics England, the company leading the U.K. 100,000 genomes project, has released the results of its annotation assessment. Diploid is among the winners, and has secured a place in the next stage of the evaluation.

Earlier this year, Genomics England invited genome interpretation companies worldwide to take part in an annotation assessment competition. Companies had to identify the causal variants in patients affected by rare diseases. A team led by Professor Tim Hubbard of King’s College London and the Head of Bioinformatics at Genomics England then evaluated the responses. Sixteen reports were received in the rare disease category and only four companies were able to solve all of the cases. Diploid was one of them.

“The Genomics England project is a milestone in the history of human genetics”, says Dr. Peter Schols, founder and CEO of Diploid. “For the first time in history, a genome project of this scale will be integrated into a nation’s mainstream health system. We are very excited to be part of this breakthrough project. In addition, Diploid’s selection underscores the fact that our clinical genome interpretation service is among the best worldwide.”

Diploid offers its human genome interpretation service to hospitals, commercial labs and private research labs in Europe, Asia and the U.S.


Links
Genomics England website: http://www.genomicsengland.co.uk
Diploid website: http://www.diploid.com


Press Contact
Dr. Peter Schols
pr@diploid.com
http://www.diploid.com
+1 855-855-6501 (US toll free number)

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Diploid introduces human genome interpretation service

LEUVEN, Belgium — October 10, 2014 — Today, Diploid announces the availability of its genome interpretation service. The service analyzes next generation sequencing data, annotating and identifying novel and known pathogenic variants underlying rare genetic conditions.

“With plummeting sequencing costs, exome and whole genome sequencing are rapidly replacing traditional sequencing techniques,” says Dr. Peter Schols, Diploid's CEO. While these next generation sequencing technologies have proven their value in clinical practice, the amount of data generated is staggering. As a result, the bottleneck will increasingly become the costly and labor- intensive aspect of interpreting genomic data. With Diploid, medical genetics departments, pharmaceutical research centers and private sequencing labs can now outsource the actual interpretation.

Using Diploid's award-winning system for human genome analysis, including markers for over 1,800 conditions as well as a pipeline for identification of novel variants, Diploid provides one of the most comprehensive analysis platforms currently available. Clients submit raw genetic data (vcf or bam files) together with phenotype data. Within 14 business days, Diploid delivers extensive reports pinpointing the most likely causal variants. These reports include background information and literature references, as well as a description of the filtering and annotation procedure. As a result, scientists can easily reproduce and verify Diploid's analyses.

Diploid geneticists remain available 7 days a week to answer any questions. Analyses start at $740 USD per sample (for either exome or whole genome data) for multi-sample orders. Diploid offers free interpretation of the first genome or exome, allowing prospective clients to become familiar with the service.


Links
Website: http://www.diploid.com


Press Contact
Dr. Peter Schols
pr@diploid.com
http://www.diploid.com
+1 855-855-6501 (US toll free number)

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