P341: A comprehensive analysis of variations in sexual characteristics across OMIM

samples was performed using the PureTarget workflow on SMRT Link.This workflow allows for the intuitive evaluation of all PureTarget samples in a single analysis.Results: The combination of the PureTarget assay and analysis solutions allows for accurate repeat genotyping and repeat expansion detection.The TRGT visualizations provided in the SMRT Link workflow allow for the interpretation of sequence composition, methylation status and allele mosaicism.We also demonstrate the ability to define and resolve structurally complex repeat alleles (as needed for RFC1), as well as detect methylation. Conclusion:The PureTarget assay and TRGT software suite in SMRT Link allows for a comprehensive look at repeat expansions.This sample-to-answer solution allows for the detection and visualization of repeats with, and without mosaicism, their sequence composition and their methylation status in one system.