Gamete binning: chromosome-level and haplotype-resolved genome assembly enabled by high-throughput single-cell sequencing of gamete genomes

Genome Biol. 2020 Dec 29;21(1):306. doi: 10.1186/s13059-020-02235-5.

Abstract

Generating chromosome-level, haplotype-resolved assemblies of heterozygous genomes remains challenging. To address this, we developed gamete binning, a method based on single-cell sequencing of haploid gametes enabling separation of the whole-genome sequencing reads into haplotype-specific reads sets. After assembling the reads of each haplotype, the contigs are scaffolded to chromosome level using a genetic map derived from the gametes. We assemble the two genomes of a diploid apricot tree based on whole-genome sequencing of 445 individual pollen grains. The two haplotype assemblies (N50: 25.5 and 25.8 Mb) feature a haplotyping precision of greater than 99% and are accurately scaffolded to chromosome-level.

Keywords: De novo assembly; Haplotype-resolved assembly; Haplotyping; Phasing; Single-cell sequencing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes*
  • Diploidy
  • Genome Size
  • Genome*
  • Germ Cells*
  • Haploidy
  • Haplotypes*
  • Heterozygote
  • High-Throughput Nucleotide Sequencing / methods*
  • Plant Shoots
  • Pollen / genetics
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Spain
  • Whole Genome Sequencing