InHelix integrates with Face2Gene to improve CNV analysis
We are proud to announce that InHelix, our software for CNV analysis, is the first platform to integrate with Face2Gene
, the brilliant app for automated detection of facial dysmorphisms.
Read more in our press release
or create an InHelix account
and test drive it for free with your own CNV data.
InHelix: next generation CNV analysis software
We're proud to release InHelix, the first software that has been built from the ground up for NGS based CNV analysis. InHelix can help you annotate, visualise, analyse and report CNVs in rare disease diagnostics. Read the press release, or visit the InHelix section for more information.
Diploid introduces Diagnosed
Today we introduced Diagnosed
, a service that pinpoints the molecular cause of rare diseases. Diagnosed is based on WGS and includes SNP and CNV analysis.
Do you have patients that are undiagnosed even though they have been whole genome sequenced? Then Diagnosed could provide the answer. If we can't, we will refund the cost of the analysis.
Read more at http://www.diploid.com/diagnosed
We're hiring a Clinical Geneticist
Join our team to work on groundbreaking projects in the field of human genome interpretation.
More information is available at http://www.diploid.com/jobs/clinical-geneticist-40.
Feel free to share this job position with colleagues and friends using the share buttons below.
Sengenics and Diploid Sign Exclusive Partnership
We're excited to announce that Diploid has just signed an exclusive partnership with Sengenics to enable more streamlined NGS diagnostics in the Middle East and GCC countries.
We are honoured that from now on, Sengenics will be working exclusively with Diploid for the interpretation of all their WES and WGS samples. We're looking forward to providing a diagnosis for more patients, faster.
The full press release is available at http://www.diploid.com/press/diploid-sengenics
Diploid at ESHG in Glasgow
Diploid will be introducing its human genome interpretation service at the ESHG conference, starting later this week in Glasgow. Come by our booth #632, taste some Belgian chocolates and receive a free first exome or whole genome interpretation. Hope to see you in Glasgow!
Differ: a free and friendly VCF viewer for OS X
Here at Diploid we're proud to release the first beta of Differ
, a VCF viewer for OS X. The idea to create Differ originated while working with clients of our genome interpretation service. Many of them are having a hard time working with VCF files. Opening huge whole genome VCF files, searching them, splitting VCFs that contain multiple samples,.... all of these VCF-related tasks are often difficult and cumbersome, even for geneticists with a good level of bioinformatics knowledge.
Differ wants to put fiddling with VCFs to an end: it offers a graphical way to inspect, search, split and merge VCF files. It's not only more friendly to use, it's actually faster than any Unix tool or commercial application on the market today. That's because Differ uses all available processor cores on your Mac.
Read the full press release
, or try Differ
on your own Mac. The software is in its first beta, we're welcoming feedback from the genomics community.