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利用牛津纳米孔长读长和光学图谱技术对珍珠粟参考基因组进行了改良组装。

An improved assembly of the pearl millet reference genome using Oxford Nanopore long reads and optical mapping.

机构信息

DIADE, Université de Montpellier, Institut de Recherche pour le Développement (IRD), Centre de coopération internationale en recherche agronomique pour le développement (CIRAD), 34394 Montpellier, France.

Centre National de Ressources Génomiques Végétales (CNRGV), Institut national de recherche pour l'agriculture, l'alimentation et l'environnement (INRAE), 31320 Castanet-Tolosan, France.

出版信息

G3 (Bethesda). 2023 May 2;13(5). doi: 10.1093/g3journal/jkad051.

DOI:10.1093/g3journal/jkad051
PMID:36891809
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10151396/
Abstract

Pearl millet (Pennisetum glaucum (L.)) R. Br. syn. Cenchrus americanus (L.) Morrone) is an important crop in South Asia and sub-Saharan Africa which contributes to ensuring food security. Its genome has an estimated size of 1.76 Gb and displays a high level of repetitiveness above 80%. A first assembly was previously obtained for the Tift 23D2B1-P1-P5 cultivar genotype using short-read sequencing technologies. This assembly is, however, incomplete and fragmented with around 200 Mb unplaced on chromosomes. We report here an improved quality assembly of the pearl millet Tift 23D2B1-P1-P5 cultivar genotype obtained with an approach combining Oxford Nanopore long reads and Bionano Genomics optical maps. This strategy allowed us to add around 200 Mb at the chromosome-level assembly. Moreover, we strongly improved continuity in the order of the contigs and scaffolds within the chromosomes, particularly in the centromeric regions. Notably, we added more than 100 Mb around the centromeric region on chromosome 7. This new assembly also displayed a higher gene completeness with a complete BUSCO score of 98.4% using the Poales database. This more complete and higher quality assembly of the Tift 23D2B1-P1-P5 genotype now available to the community will help in the development of research on the role of structural variants and more broadly in genomics studies and the breeding of pearl millet.

摘要

珍珠粟(Pennisetum glaucum (L.))是南亚和撒哈拉以南非洲的一种重要作物,有助于确保粮食安全。其基因组估计大小为 1.76Gb,重复率高于 80%,水平较高。先前使用短读测序技术对 Tift 23D2B1-P1-P5 栽培品种基因型进行了首次组装。然而,该组装不完整且碎片化,约有 200Mb 未定位在染色体上。我们在这里报告了一种使用结合 Oxford Nanopore 长读和 Bionano Genomics 光学图谱的方法对珍珠粟 Tift 23D2B1-P1-P5 栽培品种基因型进行的改进质量组装。该策略使我们能够在染色体水平组装中添加约 200Mb。此外,我们还大大提高了染色体内的连续体和支架的顺序连续性,特别是在着丝粒区域。值得注意的是,我们在第 7 号染色体的着丝粒区域周围添加了超过 100Mb。使用 Poales 数据库,这个新组装还显示出更高的基因完整性,具有完整的 BUSCO 分数 98.4%。这个更完整和更高质量的 Tift 23D2B1-P1-P5 基因型组装现在可供社区使用,将有助于研究结构变异的作用,并更广泛地促进珍珠粟的基因组学研究和育种。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/504c/10151396/d92e1da70a4f/jkad051f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/504c/10151396/d92e1da70a4f/jkad051f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/504c/10151396/d92e1da70a4f/jkad051f1.jpg

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