Article
Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma.
Investigative ophthalmology & visual science - 1 Aug 2015
Gharahkhani Puya, Burdon Kathryn P, Hewitt Alex W, Law Matthew H, Souzeau Emmanuelle, Montgomery Grant W, Radford-Smith Graham, Mackey David A, Craig Jamie E, MacGregor Stuart
Abstract excerpt
PURPOSE: Myocilin (MYOC) is a well-established primary open-angle glaucoma (POAG) risk gene, with rare variants known to have high penetrance. The most common clinically relevant risk variant, Gln368Ter, has an allele frequency of 0.1% to 0.3% in populations of European ancestry. Detection of rare MYOC variants has traditionally been conducted using Sanger sequencing. Here we report the use of genotyping arrays...
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