Coline Thomas
A5085647743- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
- Scientific Computing and Data Management
- Genetic factors in colorectal cancer
- Gene expression and cancer classification
- Research Data Management Practices
European Bioinformatics Institute
2021-2025
Abstract The European Genome-phenome Archive (EGA - https://ega-archive.org/) is a resource for long term secure archiving of all types potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical research projects. Its mission to foster hosted reuse, enable reproducibility, accelerate translational in line with the FAIR principles. Launched 2008, EGA has grown quickly, currently over 4,500 studies nearly one thousand institutions. operates distributed access...
Genetic diagnosis of rare diseases requires accurate identification and interpretation genomic variants. Clinical molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree rare-disease data (94.5% exomes, 5.5% genomes), performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed 6,004 families. We established a collaborative, two-level review...
Abstract The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing (“solving”) rare diseases (RDs). aims significantly increase the diagnostic success rate by co-analyzing data thousands of RD cases, including phenotypes, pedigrees, exome/genome sequencing, multiomics data. Here we report infrastructure devised created support this co-analysis. This enables users store, find,...
The Solve-RD project objectives include solving undiagnosed rare diseases (RD) through collaborative research on shared genome-phenome datasets. RD-Connect Genome-Phenome Analysis Platform (GPAP), for data collation and analysis, the European Archive (EGA), file storage, are two key components of infrastructure. Clinical researchers can identify candidate genetic variants within GPAP and, thanks to developments presented here as part joint ELIXIR activities, able remotely visualize...
Abstract The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing (“solving”) rare diseases (RDs). aims significantly increase the diagnostic success rate by co-analysing data thousands of RD cases, including phenotypes, pedigrees, exome/genome sequencing multi-omics data. Here we report infrastructure devised created support this co-analysis. This enables users store, find,...