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Toward representative genomic research: the children's rare disease cohorts experience.

Zoë J FrazierEurnestine BrownShira RockowitzTed LeeBo ZhangAbigail SvedenNancy L ChamberlinKira A DiesAnnapurna PoduriPiotr SlizMaya Chopra
Published in: Therapeutic advances in rare disease (2023)
We highlight underrepresentation of certain racial and ethnic populations in sequencing cohorts compared to the general hospital population. We propose a range of measures to address these disparities, to strive for equitable future precision medicine-based clinical care and for the benefit of the whole rare disease community.
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