Abstract
Genetic maps have been fundamental to building our understanding of disease genetics and evolutionary processes. The gametes of an individual contain all of the information required to perform a de novo chromosome-scale assembly of an individual's genome, which historically has been performed with populations and pedigrees. Here, we discuss how single-cell gamete sequencing offers the potential to merge the advantages of short-read sequencing with the ability to build personalized genetic maps and open up an entirely new space in personalized genetics.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Chromosome Mapping
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Computational Biology / methods
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Computational Biology / standards
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Data Interpretation, Statistical
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Genetic Heterogeneity
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Genome*
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Genomics / methods*
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Genomics / standards
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Germ Cells / metabolism*
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High-Throughput Nucleotide Sequencing* / methods
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Humans
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Precision Medicine / methods*
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Precision Medicine / standards
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Reproducibility of Results
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Sensitivity and Specificity
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Single-Cell Analysis / methods*
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Single-Cell Analysis / standards
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Whole Genome Sequencing