Cell type-specific contextualisation of the human phenome: towards the systematic treatment of all rare diseases

This diagnostic/model validation study was triaged for T9 - Rare Diseases based on abstract review. It appears high priority because it addresses a direct clinical or diagnostic question with moderate evidence maturity.

This diagnostic/model validation study was triaged for T9 - Rare Diseases based on abstract review. It appears high priority because it addresses a direct clinical or diagnostic question with moderate evidence maturity.

What the study was

Study design

Diagnostic/model validation study

Maturity

Validated

Journal

Genome medicine

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