Article

Advancing Understanding of Inequities in Rare Disease Genomics

2023-03-29

Abstract excerpt

<h4>Purpose</h4> Advances in genomic research have led to the diagnosis of rare, early-onset diseases for thousands of individuals. Unfortunately, the benefits of advanced genetic diagnostic technology are not distributed equitably among the population, as has been seen in many other healthcare contexts. Even quantifying and describing inequities in genetic diagnostic yield is challenging due to variation in refer...

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Literature Corpus work: 04efb8e8-4984-5311-88b1-9fd7817f1aaf
DOI: 10.1101/2023.03.28.23286936

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