66. Optical genome mapping workflow for Somatic Abnormality detection in Multiple Solid Tumor types

Solid tumors are often characterized by a high degree of complex somatic structural variants of multiple classes, especially rearrangements and copy number variants. Characterizing this genomic complexity is crucial for understanding the biology behind carcinogenesis but is challenging as a result of limitations of current genomic technology classes: cytogenic (low resolution) and molecular (poor sensitivity for structural variation). Accurate assessment of genomic structural variation is important because some tumors acquire growths advantage by amplifying or creating oncogenes by fusing otherwise non-pathogenic genes and by deleting/inactivating tumor suppressor genes.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research