Welcome to PhenoSystems

We develop software for the molecular genetics community since 2002, in close collaboration with leading European diagnostics laboratories, universities and public hospitals. We are regularly involved as active SME partners in European research projects funded by the European Community (FP6, FP7, Eureka).

Our products are targeted for the biologist, genetician or MD working on DNA sequences, whether it is human, viral or bacterial DNA, as well as for the biologists working in the veterinary field where DNA is used to diagnose diseases as well as for breeding purposes.


Translation of the Genetic Variant Interpretation Tool (ACMG/AMP)

With permission from Linda Jeng, MD, PhD, FACMG, (University of Maryland), and collaboration with molecular diagnostics partners in France and Czech Republic, we are now offering translations in French and Czech of their "Genetic Variant Interpretation Tool". We are open to collaborate with diagnostics laboratories in other countries to translate it into further languages.

You can find the French version here.

You can find the Czech version here.

HVP Variant Effect Prediction Training Course


It is our pleasure to invite you to attend and participate in the 2nd HVP Variant Effect Prediction Training Course that will be held from Monday 6 to Wednesday 8 November 2017 in the beautiful historic city of Prague, Czech Republic. The second workshop will be based on the subjects covered by the Course in Heraklion 2016 but improved based on suggestions of the participants.

The Course will satellite the National DNA Diagnostics meeting that will be held in nearby Pilsen 9 - 10 November.

More information and registration here.

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.

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.

GensearchNGS moves to 1.6

6GensearchNGS latest release is now avalailable with the 1.6 version. Some feature highlights include support for RNAseq and DNA methylation data analysis, phenotype filtering through HPO, OMIM and Orphanet, all with codes as well as most with OMIM descriptions, and all with HPO and Orphanet descriptions.

Please contact us for more information.

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