Patricia C Mazzonetto, Darine Villela, Silvia Souza da Costa, Ana C V Krepischi, Fernanda Milanezi, Michele P Migliavacca, Paulo M Pierry, Adriano Bonaldi, Luiz Gustavo D Almeida, Camila Alves De Souza, José Eduardo Kroll, Marcelo G Paula, Rodrigo Guarischi-Sousa, Cristovam Scapulatempo-Neto, Carla Rosenberg
INTRODUCTION: Next generation sequencing technology has greatly reduced the cost and time required for sequencing a genome. An approach that is rapidly being adopted as an alternative method for CNV analysis is the low-pass whole genome sequencing (LP-WGS). Here, we evaluated the performance of LP-WGS to detect copy number variants (CNVs) in clinical cytogenetics. MATERIALS AND METHODS: DNA samples with known CNVs detected by chromosomal microarray analyses (CMA) were selected for comparison and used as positive controls; our panel included 44 DNA samples (12 prenatal and 32 postnatal), comprising a total of 55 chromosome imbalances...
October 9, 2023: Annals of Human Genetics