Omics Integration and Data Modeling
These services integrate omics-driven analyses, including phenotype–genotype characterisation of rare paediatric diseases and genomic, exomic, and transcriptomic profiling. Data are processed using customised pipelines or expert-curated workflows, integrating machine learning tools (E-SNPs&GO, DDGemb, ISPRED-SEQ) for variant interpretation and functional prediction. Combined with molecular modelling, these analyses enable target prioritisation and provide a comprehensive, paediatric-specific understanding of disease mechanisms.
