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配子-bin 分析:通过高通量单细胞配子基因组测序实现染色体水平和单倍型分辨率的基因组组装。

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

机构信息

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.

出版信息

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a52c/7771071/a07d691284b6/13059_2020_2235_Fig1_HTML.jpg

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