Long-Read DNA Sequencing and RNA Sequencing in LFS-Like Families

Division Of Basic Sciences - Nci

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Abstract

Long-read DNA sequencing in LFS-like participants: Major activities: -We are in the process of finalizing and submitting the manuscript for this project. Results: We characterize several potential small variants and structural variants of interest. Two related individuals (one diagnosed with cancer, one not) had a TP53 variant of uncertain significance (c.845G>A). Two unrelated individuals had variants in ATM: c.9023G>A and c.8147T>C. We did not observe any significant difference in expression levels of TP53 compared to housekeeping genes when comparing our samples to GTEx. We did not observe any family-specific PSI patterns.