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NIHR Bioresource: Advancing Rare Disease research with Omics technologies.
About the project
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Developing a comprehensive multi-omics resource of 1,000 rare genetic disease patients
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Covers 15+ disease areas
Omics datasets generated
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Genomics
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Short-read whole genome sequencing (30x coverage)
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Long-read whole genome sequencing (30x coverage)
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Transcriptomics
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RNA sequencing across 4 immune/hematopoietic cell types: Neutrophils, Monocytes, CD4 T-cells, Platelets
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Proteomics
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Mass spectrometry profiling on the 4 cell types + plasma
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Other data
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Whole blood counts
Impact for Rare Disease Research
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First-in-kind deep multi-omics dataset across genomics, epigenomics, transcriptomics & proteomics
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Enables discovery of novel mechanisms and biomarkers
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Improves diagnostic yield and understanding of disease biology
