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What is Disease? What is Rare?

Prototype Genetic Test Screens for Hundreds of Rare Diseases

By Anette Breindl

Tuesday, January 18, 2011
"There's been a lot of talk about moving next-generation sequencing into clinical diagnostic settings," Stephen Kingsmore told BioWorld Today. Last week, Kingsmore and a team of colleagues reported a big step in that direction: the development of a carrier test that screens for about 450 rare recessive disorders and could be used on either parents or infants.

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