The Peach v2.0 release: high-resolution linkage mapping and deep resequencing improve chromosome-scale assembly and contiguity

作者：Ignazio Verde, Jerry W. Jenkins, Luca Dondini, Sabrina Micali, Giulia Pagliarani, Elisa Vendramin, Roberta Paris, Valeria Aramini, Laura Gazza, Laura Rossini, D. Bassi, Michela Troggio, Shengqiang Shu, Jane Grimwood, Stefano Tartarini, Maria Teresa Dettori, Jeremy Schmutz · 发表于：BMC Genomics · 年份：2017 · DOI：10.1186/s12864-017-3606-9 · 被引用次数：505 · 研究领域：Plant Reproductive Biology、Genetic diversity and population structure、Plant Physiology and Cultivation Studies

BACKGROUND: The availability of the peach genome sequence has fostered relevant research in peach and related Prunus species enabling the identification of genes underlying important horticultural traits as well as the development of advanced tools for genetic and genomic analyses. The first release of the peach genome (Peach v1.0) represented a high-quality WGS (Whole Genome Shotgun) chromosome-scale assembly with high contiguity (contig L50 214.2 kb), large portions of mapped sequences (96%) and high base accuracy (99.96%). The aim of this work was to improve the quality of the first assembly by increasing the portion of mapped and oriented sequences, correcting misassemblies and improving the contiguity and base accuracy using high-throughput linkage mapping and deep resequencing approaches. RESULTS: Four linkage maps with 3,576 molecular markers were used to improve the portion of mapped and oriented sequences (from 96.0% and 85.6% of Peach v1.0 to 99.2% and 98.2% of v2.0, respectively) and enabled a more detailed identification of discernible misassemblies (10.4 Mb in total). The deep resequencing approach fixed 859 homozygous SNPs (Single Nucleotide Polymorphisms) and 1347 homozygous indels. Moreover, the assembled NGS contigs enabled the closing of 212 gaps with an improvement in the contig L50 of 19.2%. CONCLUSIONS: The improved high quality peach genome assembly (Peach v2.0) represents a valuable tool for the analysis of the genetic diversity, domestication, and as a...