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

在这项先导性研究中，从DCEG的LFS自然病史队列中确定了21名患者，并提供了可用的血液样本，但没有已知的TP53突变。对于已确定的任何感兴趣的变种，都已确定了家庭关系和联系的特征。这些患者目前正在接受血液中长时间阅读的DNA(与Michael Dean合作，DCEG博士进行测序解释，Misha Kolmogorov博士，CCR博士进行计算评估)和全转录组RNA-seq(包括剪接点评估和相对基因表达水平)。

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).