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Genetic variation and the de novo assembly of human genomes

Nature Reviews. Genetics

Nov 1, 2015

Mark J.P. ChaissonEvan E. Eichler

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Abstract

The discovery of genetic variation and the assembly of genome sequences are both inextricably linked to advances in DNA-sequencing technology. Short-read massively parallel sequencing has revolutionized our ability to discover genetic variation but is insufficient to generate high-quali...read more

Mentioned in this Paper

Biological Evolution
Genome
Genome, Human
Human Genetics
Variation (Genetics)
Genome Mapping
DNA Sequence
Genetic Predisposition to Disease
Structure
Molecular Assembly/Self Assembly
113
1
12
726
1
Paper Details
References
    • References99
    • Citations54
    • References99
    • Citations54
  • Genetic variation and the de novo assembly of human genomes

    Nature Reviews. Genetics

    Nov 1, 2015

    Mark J.P. ChaissonEvan E. Eichler

    PMID: 26442640

    DOI: 10.1038/nrg3933

    Abstract

    The discovery of genetic variation and the assembly of genome sequences are both inextricably linked to advances in DNA-sequencing technology. Short-read massively parallel sequencing has revolutionized our ability to discover genetic variation but is insufficient to generate high-quali...read more

    Mentioned in this Paper

    Biological Evolution
    Genome
    Genome, Human
    Human Genetics
    Variation (Genetics)
    113
    1
    12
    726
    1
    Paper Details
    References
    • References99
    • Citations54
    • References99
    • Citations54
  • Get paper from

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