Silvia Souza da Costa, Veniamin Fishman, Mara Pinheiro, Andre Rodrigueiro, Maria Teresa Sanseverino, Paulo Zielinsky, Claudia M B Carvalho, Carla Rosenberg, Ana Cristina Victorino Krepischi
Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis underlying rare diseases. The aim of this study was to resolve a 9p24 rearrangement segregating in a family through five generations with a congenital heart defect (congenital pulmonary and aortic valvular stenosis and pulmonary artery stenosis), by applying a combined genomic analysis. The analysis involved multiple techniques, including karyotype, chromosomal microarray analysis (CMA), FISH, genome sequencing (GS), RNA-seq, and optical genome mapping (OGM)...
March 19, 2024: Chromosome Research