Single cells and long reads ​– a multiomic power couple @PacificBiosciences
Single cells and long reads ​– a multiomic power couple  @PacificBiosciences
Uploaded January 2025 | Updated September 2026, 28 minutes ago
Dr. Jonas Demeulemeester’s presentation focuses on the study of somatic variation and its impact on complex genetic mutations over a lifetime. He emphasizes the importance of multi-omics technologies to bridge the gap between genotypes and phenotypes. He then explores insights from his work on whole genome sequencing, particularly in cancer genomics, where identifying and understanding complex variations are crucial.

Dr. Demeulemeester’s discusses challenges faced with traditional short-read sequencing and the advantages of PacBio HiFi long-read sequencing for detecting structural variants and modifications. He highlights his project on Parkinson's disease, aiming to uncover the functional impact of complex variants using long-read multi-omics and single-cell approaches. Dr. Demeulemeester underscores the need for technological advancements and toolkit development to handle large datasets, integrating deep learning and computer vision to analyze chromatin patterns and predict the functional consequences of genetic variations.

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Single cells and long reads ​– a multiomic power couple

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