50. Whole genome optical mapping (WGOM) characterization of a complex case of myelodysplastic syndrome (MDS)

MDS are a heterogeneous group of hematopoietic neoplasms characterized by abnormal differentiation, dysplasia and cytopenias. Karyotype/FISH and microarrays are required to obtain a comprehensive molecular profile for the prognostication of patients with MDS. Herein, we present a case of MDS analyzed on the Bionano Saphry platform, demonstrating the ability of WGOM technology to better characterize and delineate structural variants (SVs) originally identified by conventional techniques. A 62 year old white male, diagnosed with MDS with excess blasts-2, and

Source: Cancer Genetics and Cytogenetics - May 31, 2020 Category: Genetics & Stem Cells Authors: Nikhil Sahajpal, Ashis Mondal, Allan Njau, Meenakshi Ahluwalia, Nwogbo Okechukwu, Vamsi Kota, Alka Chaubey, Ravindra Kolhe Source Type: research