Diploid's booth at ASHG14 in San Diego drawing lots of attention

Last week we presented the Diploid genome interpretation service at the ASHG14 conference in San Diego. Our Diploid booth received many visitors interested in outsourcing their clinical exome and genome interpretation. It's clear that clinical exome sequencing has reached the tipping point for mass adoption. This is an exciting evolution, undoubtedly leading to a significant increase in diagnostic rate and to better, more personalised care. Many medical geneticists, however, noted the major challenges in WES and WGS: making sure IT-infrastructure and staff can handle the huge amount of data generated by NGS. We gave away hundreds of free exome interpretations, allowing these departments to familiarise themselves with outsourcing their clinical genome interpretation to us.

It was a great experience to meet some of our (prospective) clients and to learn from their experiences. We'd like to thank all visitors to our booth for dropping by and sharing valuable feedback.


Diploid selected in Genomics England’s annotation assessment

In an effort led by the NHS, the United Kingdom is about to sequence 100,000 patients by the end of 2017. Genomics England, the company leading this landmark project, therefore organised an annotation assessment earlier this year. Today, the results have been announced and Diploid is among the winners of this worldwide competition.

Read the full press release on our press page


Diploid introduces its human genome interpretation service

We're proud to introduce our human genome interpretation service to the world. With this service, hospitals, commercial labs and research departments can now outsource the (clinical) interpretation of exome and whole genome data. Clients submit genetic data (VCF and/or BAM files) and receive a clinical report within 14 business days (or 7 business days for our fast track service. In addition, we can take care of the lab work through our network of CLIA and CAP certified partner labs.

With our award-winning team of geneticists, bioinformaticians and designers, we focus on rare diseases diagnostics. In addition, we also have expertise in the field of pharmacogenomics.

More information about our Diploid interpretation service is available at: http://www.diploid.com/service
A full press release is available at http://www.diploid.com/press/diploid-introduces-human-genome-interpretation-service