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

José Antonio Campoy, Hequan Sun, Manish Goel, Wen‐Biao Jiao, Kat Folz‐Donahue, Nan Wang, M. Rubio, Chang Liu, Christian Kukat, David Ruiz, Bruno Hüettel, Korbinian Schneeberger

2020Genome biology84 citationsDOIOpen Access PDF

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.

Topics & Concepts

BiologyGameteHaplotypeGenomeGeneticsDNA sequencingComputational biologyEvolutionary biologyChromosomeHuman geneticsGenomicsGeneAlleleSpermPlant Reproductive BiologyGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesEvolution and Genetic Dynamics
Gamete binning: chromosome-level and haplotype-resolved genome assembly enabled by high-throughput single-cell sequencing of gamete genomes | Litcius