Low Pass Whole Genome Sequencing as a Method of Determining Copy Number Variations in Uveal Melanoma Tissue Samples

Analysis of specific somatic copy number alterations (SCNAs) using multiplex ligation-dependent probe amplification (MLPA) is routinely used as prognostic test for uveal melanoma (UM). This technique requires relatively large amounts of input DNA, unattainable from many small fine needle aspirate biopsies. Herein we compared the use of MLPA with whole genome amplification (WGA) combined with low-pass whole genome sequencing (LP-WGS) for detection of SCNA profiles in UM biopsy specimens. DNA was extracted from 21 formalin-fixed paraffin-embedded FFPE UM samples and SCNAs were assessed using MLPA and WGA followed by LP-WGS.

Source: Journal of Molecular Diagnostics - January 20, 2020 Category: Pathology Authors: Aaron B. Beasley, Jacqueline Bentel, Richard J.N. Allcock, Tersia Vermeulen, Leslie Calapre, Timothy Isaacs, Melanie R. Ziman, Fred K. Chen, Elin S. Gray Tags: Regular Article Source Type: research