Third Generation Cytogenetic Analysis (TGCA): Potential Future Diagnostic Application of Long-Read Sequencing
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CNVs are the primary cause of many rare and common human diseases, from Mendelian syndromes to complex disease and malignancies. CNVs range from aneuploidies to submicroscopic alterations and their detection is a key factor for the diagnosis and the appropriate clinical management of such conditions.
Conventional analysis (CCG, CMA and SGS) have been vastly adopted to detect CNVs in clinical settings but each of these approaches has technical limitations impacting significantly on turnaround time and diagnostic yield. We describe the application of long reads sequencing to the real-time detection of homogeneous or mosaic aneuploidies and recurrent submicroscopic CNVs