Journal: Scientific Reports
Article Title: Whole-genome optical mapping of bone-marrow myeloma cells reveals association of extramedullary multiple myeloma with chromosome 1 abnormalities
doi: 10.1038/s41598-021-93835-z
Figure Lengend Snippet: Workflow of optical mapping and bioinformatics pipelines used. HMW DNA is isolated from CD138+ plasma cells of BM aspirates and labelled by DLS chemistry in specific sequences across entire genomes. Labelled DNA is loaded on the chip and linearised and visualised in a Saphyr instrument. Images are converted to BNX molecules. The architecture of the bioinformatics pipeline includes two pipelines (de novo and rare variant), constructing optical genome maps and comparing them with a human reference map (hg38), filtering detected variants for somatic SVs and merging data from both pipelines. The last step enables a comparison of the data with the gene panels created from NCBI gene datasets.
Article Snippet: A total of 750–1000 ng of HMW DNA was then labelled using the Bionano Prep Direct Label and Stain DLS DNA Kit (Bionano Genomics, #80005), according to the manufacturer’s protocol .
Techniques: Isolation, Clinical Proteomics, Variant Assay, Comparison