Approaches to long-read sequencing in a clinical setting to improve diagnostic rate - Sanford Kobayashi, Erica; Batalov, Serge; Wenger, Aaron M.; Lambert, Christine; Dhillon, Harsharan; Hall, Richard J.; Baybayan, Primo; Ding, Yan; Rego, Seema; Wigby, Kristen; Friedman, Jennifer; Hobbs, Charlotte; et al. (Scientific reports, 2022)
Keywords: 631/208/1516; 631/208/212/2301; 692/420/2489; 692/700/1720; Base Sequence; DNA methylation; Genetic screening; Genome, Human; Genomes; Genomics; High-Throughput Nucleotide Sequencing - methods; Humanities and Social Sciences; Humans; I-kappa B Kinase; Immunodeficiency; multidisciplinary; Next-generation sequencing; Science; Science (multidisciplinary); Sequence Analysis, DNA - methods; Whole genome sequencing