P756: Uncovering disease-associated SVA insertions missed by routine clinical testing

SINE-VNTR-Alu (SVA) elements are a class of composite retrotransposons that are active in the human genome. These elements can insert themselves into new genomic locations, potentially disrupting gene function and regulation, or may affect gene function by altering splicing or expression. Structural variations (SVs) caused by SVA insertions are underrepresented or not fully resolved in population databases due to technical challenges in detection, especially with short-read sequencing technologies.