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Abstract Body

Purpose
Overview of a program to facilitate the diagnosis of patients with undiagnosed rare disease (RD) through the systematic collaborative analysis of previously inconclusive data with or without ulterior sequential multi-omics.
Methods
Participation of clinicians and experts in multiple fields. Reanalysis of standardized phenotypic profiles and genomic data (exomes and genomes) from approved patients with undiagnosed RDs. Systematic analysis to identify relatedness, runs of homozygosity, SNVs, Indels and CNVs, including mosaicisms. Data are collated and shared with a Genome-Phenome Analysis Platform (GPAP and RD-Cat) adapted for the project, enabling collaborative interpretation and reanalyses.
Results
Reanalysis of previous data allowed to diagnose 19% of patients, mainly by novel gene-disease associations (43%), improved bioinformatic analysis (20%), standardized phenotyping and matchmaker exchange (20.7%). New genomes provided a diagnostic yield of 36-52%, improved by 10-15% in selected cases with additional transcriptome and/or methylome analyses, and additional success rate was achieved by periodic collaborative reanalyses of open data.
Conclusion
The standardized collation of phenome and genome data, including sequential multi-omics in selected cases, through a user-friendly platform bring together otherwise scattered data and expertise. This efficient collaborative analysis and interpretation can finalize the diagnostic odyssey for a significant proportion of undiagnosed patients with RDs and facilitate the implementation of Genomic Medicine for RDs in the clinical setting.