Article
Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.
The Journal of molecular diagnostics : JMD - 1 May 2014
Tanner Alice K, Valencia C Alexander, Rhodenizer Devin, Espirages Marina, Da Silva Cristina, Borsuk Lisa, Caldwell Sara, Gregg Edward, Grimes Elizabeth, Lichanska Agnieszka M, Morris Leah, Purkayastha Anjan, Weslowski Brian, Tibbetts Clark, Lorence Matthew C, Hegde Madhuri
Abstract excerpt
Identifying individuals as carriers of severe disease traits enables informed decision making about reproductive options. Although carrier screening has traditionally been based on ethnicity, the increasing ethnic admixture in the general population argues for the need for pan-ethnic carrier screening assays. Highly multiplexed mutation panels allow for rapid and efficient testing of hundreds of mutations...
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