Package: wnpp Severity: wishlist Owner: Enrico Cocchi <diagnosticator....@gmail.com>
* Package name : diagnosticator Version : 0.1.0 Upstream Author : Enrico Cocchi <cocchi....@gmail.com> * URL : https://diagnosticator.com * License : MIT Programming Lang: Python, bash, c++ Description : Python3 web-based application for genetic variants clinical annotation This is a web-based app mainly developed in Python and served through Flask that allows variants clinical annotation (as per American College of Medical Genetics guidelines: https://pubmed.ncbi.nlm.nih.gov/25741868/) automated review starting from VEP-annotated VCF files. It proved to save an incredible amount of time to genetic researcher users (I already deployed and mantaining on Columbia University servers where it is used by internal researchers and genetic counselors). This is also completely free and open-source, as no other similar tool at the moment. This is a community-based application which aim is to share among all users annotation, variants interpretations etc. in order to boost data and knowledge sharing in clinical genetics. It is designed as a parent-child application and no sensitive information is shared over internet or similar. I will maintain this with the Bioinformatics team at Gharavi Lab. (Columbia University, http://columbiamedicine.org/divisions/gharavi) as we are already doing for internal Columbia users. I would love to have co-maintainers and a sponsor
