Broadcast Date: March 21, 2024
Time: 8:00 am PT, 11:00 am ET, 17:00 CET

The utility of long reads is well documented in studying complex genomic regions, structural variation, epigenetic modifications, and transcriptomics. More specifically, long read data are increasing our understanding of RNA splicing factors. Although the regulation of splicing factors affects hematopoiesis, the role of dysregulated RNA splicing in clonal blood disorders (such as myelodysplastic syndromes (MDS) and other blood cancers) remains unclear.

In this GEN webinar, Dr. Mariela Cortés López will present a novel approach, GoT-Splice, developed by the Landau lab at the New York Genome Center in collaboration with the Abdel-Wahab lab at MSKCC that integrates genotyping of transcriptomes (GoT) with Oxford Nanopore long-read single-cell transcriptome profiling and proteogenomics. GoT-Splice comprehensively profiles transcriptomes, surface proteins, somatic mutations, and full-length RNA splicing at single-cell resolution.

During the webinar, you’ll hear a case study where GoT-Splice was used to study hematopoietic progenitors from MDS patients with mutations in the splicing factor SF3B1, and the findings that collectively demonstrate the power of GoT-Splice in delineating the cell-type-specific impact of somatic mutations on RNA splicing.

A live Q&A session followed the presentation, offering a chance to pose questions to our expert panelist.

Mariela Cortés López
Mariela Cortés López, PhD
Postdoctoral Associate
Weill Cornell Medicine and New York Genome Center