Personalized genome structure via single gamete sequencing

Genome Biol. 2021 Apr 19;22(1):112. doi: 10.1186/s13059-021-02327-w.

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

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Computational Biology / methods
  • Computational Biology / standards
  • Data Interpretation, Statistical
  • Genetic Heterogeneity
  • Genome*
  • Genomics / methods*
  • Genomics / standards
  • Germ Cells / metabolism*
  • High-Throughput Nucleotide Sequencing* / methods
  • Humans
  • Precision Medicine / methods*
  • Precision Medicine / standards
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Single-Cell Analysis / methods*
  • Single-Cell Analysis / standards
  • Whole Genome Sequencing