Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting
Patricia C. Mazzonetto, Darine Villela, Silvia Souza da Costa, Ana Cristina Victorino Krepischi, Fernanda Milanezi, Michele Patricia Migliavacca, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Camila Alves Souza, José Eduardo Kroll, Marcelo G. Paula, Rodrigo Guarischi‐Sousa, Cristovam Scapulatempo‐Neto, Carla Rosenberg
This study validates low-pass whole genome sequencing as a reliable and cost-effective method for detecting copy number variants in clinical settings.
Annals of Human Genetics · Oct 9, 2023Peer-reviewedGenetic & Genomic Medicine