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Single haplotype assembly of the human genome from a hydatidiform mole

bioRxiv

Jul 3, 2014

Karyn Meltz SteinbergRichard K. Wilson

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Abstract

An accurate and complete reference human genome sequence assembly is essential for accurately interpreting individual genomes and associating sequence variation with disease phenotypes. While the current reference genome sequence is of very high quality, gaps and misassemblies remain du...read more

Mentioned in this Paper

probe gene fragment
Repetitive Region
Genomic Stability
Genome
Gene Duplication
Whole-Genome Shotgun Sequencing
Clone
Genome-Wide Association Study
Structure
Molecular Assembly/Self Assembly
34
53
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  • Single haplotype assembly of the human genome from a hydatidiform mole

    bioRxiv

    Jul 3, 2014

    Karyn Meltz SteinbergRichard K. Wilson

    PMID: 990006841

    DOI: 10.1101/006841

    Abstract

    An accurate and complete reference human genome sequence assembly is essential for accurately interpreting individual genomes and associating sequence variation with disease phenotypes. While the current reference genome sequence is of very high quality, gaps and misassemblies remain du...read more

    Mentioned in this Paper

    probe gene fragment
    Repetitive Region
    Genomic Stability
    Genome
    Gene Duplication
    34
    53
    Paper Details
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