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

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For this pilot study, 21 patients were identified from the LFS natural history cohort in DCEG with available blood samples and no known TP53 mutation. Familial relationships and ties have been characterized for any variants of interest that are identified. These patients are currently undergoing long-read DNA from blood (collaborating with Michael Dean, PhD in DCEG for sequencing interpretation, Misha Kolmogorov, PhD in CCR for computational assessment) and whole-transcriptome RNA-seq (including splice-site assessment and relative gene-expression levels).