Groenendijk, M., Cantor, R.M., de Bruin, T.W. Complete MHC haplotype sequencing for common disease gene mapping. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. MHC haplotype matching for unrelated hematopoietic cell transplantation. Petersdorf, E.W., Malkki, M., Gooley, T.A., Martin, P.J. Complete Khoisan and Bantu genomes from southern Africa. Single-molecule sequencing of an individual human genome. The diploid genome sequence of an Asian individual. A highly annotated whole-genome sequence of a Korean individual. The first Korean genome sequence and analysis: full genome sequencing for a socio-ethnic group. Accurate whole human genome sequencing using reversible terminator chemistry. The complete genome of an individual by massively parallel DNA sequencing. Our approach has potential applications in personal genomics, single-cell genomics and statistical genetics. We demonstrate several practical applications, including direct observation of recombination events in a family trio, deterministic phasing of deletions in individuals and direct measurement of the human leukocyte antigen haplotypes of an individual. The phases of alleles were determined at ∼99.8% accuracy for up to ∼96% of all assayed SNPs. Single-nucleotide polymorphism (SNP) array analysis of amplified DNA enabled us to achieve completely deterministic, whole-genome, personal haplotypes of four individuals, including a HapMap trio with European ancestry (CEU) and an unrelated European individual. We developed a microfluidic device capable of separating and amplifying homologous copies of each chromosome from a single human metaphase cell. Conventional experimental methods of studying the human genome are limited by the inability to independently study the combination of alleles, or haplotype, on each of the homologous copies of the chromosomes.
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