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PMID: 25468217 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S.

Whole genome de novo assemblies of three divergent strains of rice, Oryza sativa, document novel gene space of aus and indica.

Genome biology ·Vol. 15 ·No. 11 ·2014-00-00 ·Pages 506

Schatz MC, Maron LG, Stein JC, Hernandez Wences A, Gurtowski J, Biggers E, Lee H, Kramer M, Antoniou E, Ghiban E, Wright MH, Chia JM, Ware D, McCouch SR, McCombie WR

Abstract

The use of high throughput genome-sequencing technologies has uncovered a large extent of structural variation in eukaryotic genomes that makes important contributions to genomic diversity and phenotypic variation. When the genomes of different strains of a given organism are compared, whole genome resequencing data are typically aligned to an established reference sequence. However, when the reference differs in significant structural ways from the individuals under study, the analysis is often incomplete or inaccurate. Here, we use rice as a model to demonstrate how improvements in sequencing and assembly technology allow rapid and inexpensive de novo assembly of next generation sequence data into high-quality assemblies that can be directly compared using whole genome alignment to provide an unbiased assessment. Using this approach, we are able to accurately assess the "pan-genome" of three divergent rice varieties and document several megabases of each genome absent in the other two. Many of the genome-specific loci are annotated to contain genes, reflecting the potential for new biological properties that would be missed by standard reference-mapping approaches. We further provide a detailed analysis of several loci associated with agriculturally important traits, including the S5 hybrid sterility locus, the Sub1 submergence tolerance locus, the LRK gene cluster associated with improved yield, and the Pup1 cluster associated with phosphorus deficiency, illustrating the utility of our approach for biological discovery. All of the data and software are openly available to support further breeding and functional studies of rice and other species.

MeSH Terms
Breeding Chromosome Mapping Genetic Variation Genome, Plant High-Throughput Nucleotide Sequencing Oryza/genetics Phenotype Quantitative Trait Loci/genetics Sequence Alignment
Authors & Affiliations
15 authors, click to expand affiliations / ORCID
Schatz Michael C
Maron Lyza G
Stein Joshua C
Hernandez Wences Alejandro
Gurtowski James
Biggers Eric
Lee Hayan
Kramer Melissa
Antoniou Eric
Ghiban Elena
Wright Mark H
Chia Jer-ming
Ware Doreen
McCouch Susan R
McCombie W Richard
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Article Info
Journal
Genome biology
Abbr.
Genome Biol
ISSN
1474-760X
Published
2014-00-00
Pages
506
Language
English
Region
England
NLM ID
100960660
PMCID
PMC4268812
Subset
IM
Grants
NHGRI NIH HHS · R01 HG006677 · United States
NHGRI NIH HHS · R01-HG006677 · United States
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Analysis Services

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