Department of Chromosome Biology, Max Planck Institute for Plant Breeding Research, Carl-von-Linné-Weg 10, 50829, Cologne, Germany.
Faculty of Biology, LMU Munich, Großhaderner Str. 2, 82152, Planegg-Martinsried, Germany.
Genome Biol. 2020 Dec 29;21(1):306. doi: 10.1186/s13059-020-02235-5.
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.
生成杂合基因组的染色体水平、单倍型分辨率组装仍然具有挑战性。为了解决这个问题,我们开发了配子 binning 方法,该方法基于单倍体配子的单细胞测序,能够将全基因组测序reads 分离成单倍型特异性reads 集。在组装每个单倍型的reads 后,使用来自配子的遗传图谱将contigs 支架构建到染色体水平。我们基于 445 个个体花粉粒的全基因组测序,组装了一个二倍体杏树的两个基因组。这两个单倍型组装(N50:25.5 和 25.8 Mb)具有大于 99%的单倍型分辨率精度,并准确地支架构建到染色体水平。