Semi-automated assembly of high-quality diploid human reference genomes - Jarvis, Erich D.; Formenti, Giulio; Rhie, Arang; Guarracino, Andrea; Yang, Chentao; Wood, Jonathan; Tracey, Alan; Thibaud-Nissen, Francoise; Vollger, Mitchell R.; Porubsky, David; Cheng, Haoyu; Asri, Mobin; et al. (Nature (London), 2022)
Keywords: 45; 45/22; 45/23; 631/208/212; 631/208/212/2302; 631/208/457/649; 631/337/103/90; Algorithms; Amino acid sequence; Amino acids; Artificial chromosomes; Assembly; Automation; Chromosome Mapping - standards; Chromosomes; Chromosomes, Human - genetics; Consortia; Diploids; Diploidy; Gene expression; Gene sequencing; Genetic diversity; Genetic Variation - genetics; Genome, Human - genetics; Genomes; Genomics - methods; Genomics - standards; Haplotypes; Haplotypes - genetics; High-Throughput Nucleotide Sequencing - methods; High-Throughput Nucleotide Sequencing - standards; Humanities and Social Sciences; Humans; Hydatidiform mole; multidisciplinary; Nucleotides; Reference Standards; Science; Science (multidisciplinary); Sequence Analysis, DNA - methods; Sequence Analysis, DNA - standards; Telomeres; Whole genome sequencing; United States--US