Publications by authors named "J Ragoussis"

Friend of GATA1 (FOG-1) is an essential transcriptional co-factor of the master erythroid transcription factor GATA1. The knockout of the Zfpm1 gene, coding for FOG-1, results in early embryonic lethality due to anemia in mice, similar to the embryonic lethal phenotype of the Gata1 gene knockout. However, a detailed molecular analysis of the Zfpm1 knockout phenotype in erythropoiesis is presently incomplete.

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Fusion proteins have been shown to play an important role in many different cancers and other diseases. While the causal mutation can often be found in the genome as a structural variant (SV), differentiating between normal variation within individuals and somatic variants with functional consequences can be time-consuming as well as expensive since it requires a whole-genome sequencing (WGS) method. RNA Sequencing (RNA-Seq) provides a much cheaper and more straightforward approach to the detection of functional somatic events such as overexpression of proto-oncogenes as well as gene fusion.

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Article Synopsis
  • Four main molecular subtypes of medulloblastoma (MB) have been identified, but the differences in their 3D genome architecture remain unclear.
  • To investigate this, researchers used a technique called in situ Hi-C to create detailed 3D genome maps from 28 surgical MB samples and one patient-derived xenograft.
  • The findings revealed that differences in insulation scores of topologically associating domains (TADs) can effectively differentiate MB subtypes, indicating that these differences occur independently of the subtypes' gene expression levels.
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  • The COVID-19 pandemic spurred global efforts to sequence SARS-CoV-2 genomes to monitor its evolution and guide public health decisions, resulting in millions of genome sequences being shared worldwide.
  • The Canadian COVID-19 Genomics Network (CanCOGeN - VirusSeq) launched the Canadian VirusSeq Data Portal to provide open access to genomic sequences and standardized contextual data while adhering to FAIR standards.
  • The portal emphasizes data quality, privacy compliance, and security, and is used alongside tools like Viral AI and the CoVaRR-Net to facilitate ongoing research and analysis of SARS-CoV-2 variants in Canada.
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During the COVID-19 pandemic, the monitoring of SARS-CoV-2 RNA in wastewater was used to track the evolution and emergence of variant lineages and gauge infection levels in the community, informing appropriate public health responses without relying solely on clinical testing. As more sublineages were discovered, it increased the difficulty in identifying distinct variants in a mixed population sample, particularly those without a known lineage. Here, we compare the sequencing technology from Illumina and from Oxford Nanopore Technologies, in order to determine their efficacy at detecting variants of differing abundance, using 248 wastewater samples from various Quebec and Ontario cities.

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