Abstract B002: Rapid and accurate diagnosis of childhood cancers using long-read nanopore RNA sequencing
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DOI: 10.1158/1538-7445.pediatric25-b002
Abstract: The SickKids Cancer Sequencing (KiCS) program at the Hospital for Sick Children performs DNA and RNA sequencing of the tumors of all pediatric patients diagnosed with hard-to-cure cancers (metastatic, refractory, relapsed, or others with predicted… read more here.
Keywords: read nanopore; diagnosis; long read; rna seq ... See more keywords
Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy
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DOI: 10.3390/ijms232415845
Abstract: Increasing evidence suggests that both coding and non-coding regions of sarcomeric protein genes can contribute to hypertrophic cardiomyopathy (HCM). Here, we introduce an experimental workflow (tested on four patients) for complete sequencing of the most… read more here.
Keywords: application; hypertrophic cardiomyopathy; read nanopore; application long ... See more keywords