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Cost effective assay choice for rare disease study designs
Desmond D Campbell1,2, Robert M Porsch3, Stacey S Cherny4,5,6
1Department of Psychiatry, University of Hong Kong, Hong Kong, SAR, China. ddc123@hku.hk.
Orphanet Journal of Rare Diseases
|February 5, 2015
Summary
Choosing the right assay is crucial for rare disease studies with limited budgets. Our new framework maximizes the discovery of disease mechanisms within resource constraints, challenging traditional study designs.
Area of Science:
- Genetics and Genomics
- Biomedical Research Methodology
Background:
- High-throughput assays are costly, limiting subject numbers in rare disease research.
- Assay selection significantly impacts the scope and feasibility of genetic studies.
