11. Evaluation of Hi-C versus optical genome mapping for diagnosing constitutional genomic structural variants

Accurate diagnosis, prognosis, and management of genetic diseases require precise characterization of genomic structural variants (GSVs). However, current methods, such as karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis (CMA), have limitations that preventing a comprehensive understanding of GSVs and are often ordered reflexively in the clinical setting. To overcome these limitations, we implemented proximity ligation sequencing (Hi-C), which can capture ultra-long-range genome contiguity information, and compares it to optical genome mapping (OGM).
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research