Article
OR2W3 sequence variants are unlikely to cause inherited retinal diseases.
Ophthalmic genetics - 1 Dec 2016
Sharon Dror, Kimchi Adva, Rivolta Carlo
Abstract excerpt
Because of its formidable throughput, whole exome sequencing (WES) is significantly increasing the power of investigations in ophthalmic genetics. However, when applied to Mendelian conditions, WES results often contain many false positives, e.g. candidate mutations that are unrelated to the disease. For instance, highly polymorphic genes such as olfactory receptor genes carry a plethora of both common and rare...
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