Main menu

Uncovering RNA splicing's cell-specific impact on clonal blood disorders with GoT-Splice


The utility of long reads is well documented in studying complex genomic regions, structural variation, epigenetic modifications and transcriptomics. More specifically, long-read 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 webinar, Dr. Mariela Cortés López presented 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. The method 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.

The webinar presented 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 demonstrated the power of GoT-Splice in delineating the cell-type-specific impact of somatic mutations on RNA splicing.

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

入門

MinION Starter Packを購入 ナノポア製品の販売 シークエンスサービスプロバイダー グローバルディストリビューター

ナノポア技術

ナノポアの最新ニュースを購読 リソースと発表文献 Nanopore Communityとは

Oxford Nanoporeについて

ニュース 会社沿革 持続可能性 経営陣 メディアリソース & お問い合わせ先 投資家向け パートナー向け Oxford Nanopore社で働く 現在の募集状況 営業上の情報 BSI 27001 accreditationBSI 90001 accreditationBSI mark of trust
Japanese flag