GeneDx publishes data on genetic conditions

By The Science Advisory Board staff writers

March 17, 2022 -- GeneDx has published 200 new and expanded genetic conditions in the journal Human Mutation. The article outlines the firm's contributions to GeneMatcher, a genomic database designed to enable connections between clinicians and researchers.

In the article, GeneDx reports either new disease-gene relationships or expanded clinical information for known disease-causing genes. This publication expands the understanding of the links between genes and health, the company said.

GeneDx said the dataset, supported by carefully annotated and structured clinical information, drives discovery in both diagnosis and discovery.


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