Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation - Steyaert, Wouter; Haer-Wigman, Lonneke; Pfundt, Rolph; Hellebrekers, Debby; Steehouwer, Marloes; Hampstead, Juliet; de Boer, Elke; Stegmann, Alexander; Yntema, Helger; Kamsteeg, Erik-Jan; Brunner, Han; Hoischen, Alexander; et al. (Nature communications, 2023)
Keywords: 45/23; 631/114/794; 631/208/212/2301; 631/208/2489/144; 631/208/514/2254; 631/208/726/649/2219; Conversion; Copy number; DNA Copy Number Variations; Exome - genetics; Gene conversion; Gene sequencing; Genetic diversity; Genetic variance; Genomes; Genomic analysis; High-Throughput Nucleotide Sequencing - methods; Humanities and Social Sciences; Humans; INDEL Mutation; multidisciplinary; Nucleotides; Polymorphism, Single Nucleotide; Science; Science (multidisciplinary); Systems Analysis; Whole genome sequencing