Lochmüller Lab

The Lochmüller Lab submits genomic data to the RD-Connect Genome-Phenome Analysis Platform (GPAP) for diagnosis and gene discovery. This leading data sharing and analysis resource is also used by the European Solve-RD project for submission of data from the European Reference Networks for rare diseases. Solve-RD uses the RD-Connect Genome-Phenome Analysis Platform (GPAP) to allow submitters to analyse the exome and genome sequencing data of their rare disease patients. Phenotypic information (HPO-based) is collected using PhenoTips. The project is now organising two webinars to train clinicians, scientists and bioinformaticians from Solve-RD beneficiaries, associated partners and networks:

PhenoTips & data submission to GPAP
We will show how you can create PhenoTips entries and explain the different steps to submit your data to the RD-Connect Genome-Phenome Analysis Platform. There will be time to answer your questions.
Date: Wednesday, 16 January 2019, 12:00-13:00 CET
Trainer: Leslie Matalonga Borrell, Centro Nacional de Análisis Genómico, Barcelona, Spain
Registration: https://goo.gl/forms/DVKoqj3fiWOcHVpm1

Data analysis in GPAP
We will show how to use the RD-Connect Genome-Phenome Analysis Platform to analyse your data and explain the different functionalities and settings of the platform. There will be time to answer your questions.
Date: Friday, 18 January 2019, 12:00-13:00 CET
Trainer: Steven Laurie, Centro Nacional de Análisis Genómico, Barcelona, Spain
Registration: https://goo.gl/forms/i2OZCfTvf4j2adZm1