Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies
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Functional assays are being used to reclassify variants of uncertain significance in genetic disorders, including mendelian channelopathies. These assays, which include techniques such as RNA sequencing and long-read RNA workflows, aim to resolve the functional significance of suspected splice-altering variants. The use of these assays is being explored as a way to improve the accuracy of genetic testing and classification of variants in various diseases.
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