[phenotips-devs] PhenoTips 1.0 (stable) released

Sergiu Dumitriu sergiu at phenotips.org
Tue Oct 7 17:08:52 EDT 2014


The PhenoTips development team is happy to announce the availability of
the PhenoTips 1.0 release, after 3 years of development, more than 1000
issues closed, and 19 development releases.

For those new to the project, PhenoTips is an open source software tool
for collecting and analyzing phenotypic and genotypic information for
patients with genetic disorders. The main goal of PhenoTips is to
empower clinicians and scientists to perform deep phenotyping of their
patients, using a rich, structured phenotype ontology, so that the
gathered data can be used both by humans and machines. To support this,
other features of the software include:

* Gathering demographics information about the patients and their families
* Entering multiple sets of measurements, which are automatically
translated into percentiles and standard deviations, and plotted on
standard growth charts
* Uploading previous medical records, lab results, radiographies or
photographs
* Prenatal and perinatal phenotypes and related information
* Selecting a list of genes, either with known mutations, or that should
be investigated further
* Differential diagnosis tools, suggesting both phenotypes to
investigate, and possible disorders
* A rich pedigree editor, able to import and export PED files
* PDF exports for printing or archival, XLS exports for
analyzing/sharing multiple related patients, and JSON exports for
sharing data between different PhenoTips instances or different applications
* Patients can be easily pushed between PhenoTips instances
* Simple, yet powerful data privacy and collaboration settings, which
allow sharing a patient with other users or workgroups
* A dynamic homepage providing quick access to patients
* A powerful table which allows advanced filtering of all the patient
records (accessible by the current user)
* The whole patient form is configurable and extensible, with Studies
giving the option of having more than one such configuration available
at the same time
* A powerful Administration section which allows changing most of the
features of the software

The 1.0 branch will continue to be maintained with regular bugfix
releases, while the main development effort goes into the 1.1 release,
expected towards the end of the year.


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