New EMBL research, published recently in Cell Genomics, indicates that long-read genomic sequencing can reveal important patterns of chromosomal structural rearrangement that had previously eluded the more predominant short-read sequencing used in cancer genomics.
A collaboration co-led by EMBL Heidelberg, the German Cancer Research Center (DKFZ), and EMBL-EBI researchers applied new technologies to harness long-read sequencing in a way that could potentially be applied to clinical settings.
Research Summary:
- New EMBL research shows that long-read genomic sequencing seems to detect some DNA mutations better than short-read genomic sequencing.
- Using Oxford Nanopore long-read sequencing, the scientists sequenced a primary childhood brain tumour known as a medulloblastoma, uncovering a novel mutation pattern.
- Collaboration between EMBL’s bioinformaticians, genomic biologists, and clinicians from the German Cancer Research Centre (DKFZ) allowed them to devise methods to identify and characterise DNA mutations and epigenetic patterns in data.
The European Molecular Biology Laboratory (EMBL) is Europe’s life sciences laboratory. We provide leadership and coordination for the life sciences across Europe, and our world-class fundamental research seeks collaborative and interdisciplinary solutions for some of society’s biggest challenges. We provide training for students and scientists, drive the development of new technology and methods in the life sciences, and offer state-of-the-art research infrastructure for a wide range of experimental and data services.
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