The diploid genome sequence of an individual human

• Main Authors: Levy S., Sutton G., Ng P.C., Feuk L., Halpern A.L., Walenz B.P., Axelrod N., Huang J., Kirkness E.F., Denisov G., Lin Y., MacDonald J.R., Pang A.W.C., Shago M., Stockwell T.B., Tsiamouri A., Bafna V., Bansal V., Kravitz S.A., Busam D.A., Beeson K.Y., McIntosh T.C., Remington K.A., Abril J.F., Gill J., Borman J., Rogers Y.-H., Frazier M.E., Scherer S.W., Strausberg R.L., Venter J.C.
• Other Authors: MEDICINE
• Format: Article
• Published: 2019
• Subjects: DNA; allele; article; chromosome analysis; comparative genomic hybridization; diploidy; DNA determination; DNA sequence; gene deletion; gene duplication; gene insertion sequence; genetic variability; genome analysis; haplotype; heterozygosity; homozygosity; human genome; sequence alignment; sequence analysis; single nucleotide polymorphism; chromosome map; fluorescence in situ hybridization; gene dosage; genetics; genome; genotype; human; human chromosome; human genome project; insertion deletion mutation; instrumentation; male; methodology; microarray analysis; middle aged; molecular genetics; nucleotide sequence; pedigree; phenotype; reproducibility; Y chromosome; Base Sequence; Chromosome Mapping; Chromosomes, Human; Chromosomes, Human, Y; Diploidy; Gene Dosage; Genome, Human; Genotype; Haplotypes; Human Genome Project; Humans; In Situ Hybridization, Fluorescence; INDEL Mutation; Male; Microarray Analysis; Middle Aged; Molecular Sequence Data; Pedigree; Phenotype; Polymorphism, Single Nucleotide; Reproducibility of Results; Sequence Analysis, DNA
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/161688
• Institution: National University of Singapore

10.1371/journal.pbio.0050254