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- W3036016831 abstract "Abstract Haplotype phase represents the collective genetic variation between homologous chromosomes and is an essential feature of non-haploid genomes. Determining the haplotype phase requires knowledge of both the genotypes at variant sites and their linkage across each chromosome. Haplotype linkage can be either inferred statistically from a genotyped population, or determined by long-range sequencing of an individual genome. However, extending haplotype inference to the whole-chromosome scale remains challenging and usually requires special experimental techniques. Here we describe a general computational strategy to determine complete chromosomal haplotypes using a combination of bulk long-range sequencing and Hi-C sequencing. We demonstrate that this strategy can resolve the haplotypes of parental chromosomes in diploid human genomes at high precision (99%) and completeness (98%), and is further able to assemble the syntenic organization of aneuploid genomes (“digital karyotype”)." @default.
- W3036016831 created "2020-06-25" @default.
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- W3036016831 date "2019-05-07" @default.
- W3036016831 modified "2023-09-25" @default.
- W3036016831 title "Determination of complete chromosomal haplotypes by bulk DNA sequencing" @default.
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- W3036016831 doi "https://doi.org/10.1101/629337" @default.
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