Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing - Sanchis-Juan, Alba; Stephens, Jonathan; French, Courtney E.; Gleadall, Nicholas; Mégy, Karyn; Penkett, Christopher; Shamardina, Olga; Stirrups, Kathleen; Delon, Isabelle; Dewhurst, Eleanor; Dolling, Helen; Erwood, Marie; et al. (Genome medicine, 2018)
Keywords: Alleles; ARID1B; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Breakpoints; Cancer Research; Chromosomes; Complex structural variant; Congenital diseases; Deoxyribonucleic acid; DNA; DNA sequencing; Epigenetic inheritance; Gene deletion; Gene expression; Genetic variation; Genome sequencing; Genomes; Genomics; HNRNPU; Human Genetics; Identification; Medicine/Public Health; Metabolomics; Nanopore; Next-generation sequencing; Pathogenicity; Rare diseases; Studies; Systems Biology; Complex structural variant; Next-generation sequencing; Nanopore; Genome sequencing; CDKL5; HNRNPU; ARID1B; CEP78