We are busy preparing our exhibition at ESHG 2017 in Copenhagen where we will present our latest software solutions for molecular genetics and genomics. You can find us at booth 170, just in front of the Illumina booth.
Variant Detection Meeting 2017
Directly after the ESHG meeting in Copenhagen we will be in Santiago de Compostela for the Variant Detection 2017 meeting. If you can't make it to Copenhagen, you should definitely make it to Santiago!
Gensearch moves to 4.4 and provides submission tool to Clinvar
Gensearch latest release is now available with the 4.4 version. Germany has implement new regulations concerning reimbursement of genetic diagnostic tests, these include now a financial compensation for publication of novel clinically relevant variants to publicly accessible databases. Phenosystems has developed a module to submit variants to Clinvar to facilitate the work process and allow German labs to be reimbursed for this aspect in a user-friendly efficient way. Of course this module can be used by all our customers with current active support contract. In a second phase we will deploy this module also to GensearchNGS
Please contact us for more information.
3Gb-TEST Course; Next-generation sequencing in a diagnostic setting
The 3Gb-Test Consortium invites your participation to the NGS 2017 course in Ljubljana, Slovenia.
It is a 3-day course from 25th till 27th of September 2017 with focus on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practical sessions. Phenosystems will contribute to the practicals sessions.
More information about the course and how to register can be found here.
New optional genotyping module
We have now released GT, an optional genotyping module for our classical Gensearch capillary DNA sequence software. It allows to quickly identify known SNPs in large batches of amplicons, and automatically generate the nomenclature such as for the APOE genotypes.