scholarly journals De novo assembly and annotation of the North American bison ( Bison bison ) reference genome and subsequent variant identification

2021 ◽  
Author(s):  
L. K. Dobson ◽  
A. Zimin ◽  
D. Bayles ◽  
E. Fritz‐Waters ◽  
D. Alt ◽  
...  

2000 ◽  
Vol 37 (5) ◽  
pp. 428-438 ◽  
Author(s):  
C. D. Buergelt ◽  
A. W. Layton ◽  
P. E. Ginn ◽  
M. Taylor ◽  
J. M. King ◽  
...  
Keyword(s):  


2011 ◽  
Vol 85 (Suppl_1) ◽  
pp. 175-175
Author(s):  
Sulochana Krishnakumar ◽  
Douglas Whiteside ◽  
Brett Elkin ◽  
Jacob C. Thundathil


GigaScience ◽  
2020 ◽  
Vol 9 (3) ◽  
Author(s):  
Benjamin D Rosen ◽  
Derek M Bickhart ◽  
Robert D Schnabel ◽  
Sergey Koren ◽  
Christine G Elsik ◽  
...  

Abstract Background Major advances in selection progress for cattle have been made following the introduction of genomic tools over the past 10–12 years. These tools depend upon the Bos taurus reference genome (UMD3.1.1), which was created using now-outdated technologies and is hindered by a variety of deficiencies and inaccuracies. Results We present the new reference genome for cattle, ARS-UCD1.2, based on the same animal as the original to facilitate transfer and interpretation of results obtained from the earlier version, but applying a combination of modern technologies in a de novo assembly to increase continuity, accuracy, and completeness. The assembly includes 2.7 Gb and is >250× more continuous than the original assembly, with contig N50 >25 Mb and L50 of 32. We also greatly expanded supporting RNA-based data for annotation that identifies 30,396 total genes (21,039 protein coding). The new reference assembly is accessible in annotated form for public use. Conclusions We demonstrate that improved continuity of assembled sequence warrants the adoption of ARS-UCD1.2 as the new cattle reference genome and that increased assembly accuracy will benefit future research on this species.



Author(s):  
Myung-Shin Kim ◽  
Taeyoung Lee ◽  
Jeonghun Baek ◽  
Ji Hong Kim ◽  
Changhoon Kim ◽  
...  

Abstract Massive resequencing efforts have been undertaken to catalog allelic variants in major crop species including soybean, but the scope of the information for genetic variation often depends on short sequence reads mapped to the extant reference genome. Additional de novo assembled genome sequences provide a unique opportunity to explore a dispensable genome fraction in the pan-genome of a species. Here, we report the de novo assembly and annotation of Hwangkeum, a popular soybean cultivar in Korea. The assembly was constructed using PromethION nanopore sequencing data and two genetic maps, and was then error-corrected using Illumina short-reads and PacBio SMRT reads. The 933.12 Mb assembly was annotated as containing 79,870 transcripts for 58,550 genes using RNA-Seq data and the public soybean annotation set. Comparison of the Hwangkeum assembly with the Williams 82 soybean reference genome sequence (Wm82.a2.v1) revealed 1.8 million single-nucleotide polymorphisms, 0.5 million indels, and 25 thousand putative structural variants. However, there was no natural megabase-scale chromosomal rearrangement. Incidentally, by adding two novel subfamilies, we found that soybean contains four clearly separated subfamilies of centromeric satellite repeats. Analyses of satellite repeats and gene content suggested that the Hwangkeum assembly is a high-quality assembly. This was further supported by comparison of the marker arrangement of anthocyanin biosynthesis genes and of gene arrangement at the Rsv3 locus. Therefore, the results indicate that the de novo assembly of Hwangkeum is a valuable additional reference genome resource for characterizing traits for the improvement of this important crop species.



2014 ◽  
Vol 50 (2) ◽  
pp. 206-213 ◽  
Author(s):  
S Krishnakumar ◽  
DP Whiteside ◽  
B Elkin ◽  
JC Thundathil


2017 ◽  
Author(s):  
Nadia M Davidson ◽  
Alicia Oshlack

AbstractBackgroundRNA-Seq analyses can benefit from performing a genome-guided and de novo assembly, in particular for species where the reference genome or the annotation is incomplete. However, tools for integrating assembled transcriptome with reference annotation are lacking.FindingsNecklace is a software pipeline that runs genome-guided and de novo assembly and combines the resulting transcriptomes with reference genome annotations. Necklace constructs a compact but comprehensive superTranscriptome out of the assembled and reference data. Reads are subsequently aligned and counted in preparation for differential expression testing.ConclusionsNecklace allows a comprehensive transcriptome to be built from a combination of assembled and annotated transcripts which results in a more comprehensive transcriptome for the majority of organisms. In addition RNA-seq data is mapped back to this newly created superTranscript reference to enable differential expression testing with standard methods. Necklace is available from https://github.com/Oshlack/necklace/wiki under GPL 3.0.



PLoS ONE ◽  
2014 ◽  
Vol 9 (2) ◽  
pp. e88589 ◽  
Author(s):  
Petra H. Lenz ◽  
Vittoria Roncalli ◽  
R. Patrick Hassett ◽  
Le-Shin Wu ◽  
Matthew C. Cieslak ◽  
...  


2013 ◽  
Vol 48 (4) ◽  
pp. 636-642 ◽  
Author(s):  
S Krishnakumar ◽  
D Whiteside ◽  
A Dance ◽  
B Elkin ◽  
J Thundathil
Keyword(s):  


2018 ◽  
Author(s):  
Chung-Tsai Su ◽  
Ming-Tai Chang ◽  
Yun-Chian Cheng ◽  
Yun-Lung Li ◽  
Yao-Ting Wang

AbstractSummary: De novo genome assembly is an important application on both uncharacterized genome assembly and variant identification in a reference-unbiased way. In comparison with de Brujin graph, string graph is a lossless data representation for de novo assembly. However, string graph construction is computational intensive. We propose GraphSeq to accelerate string graph construction by leveraging the distributed computing framework.Availability and Implementation: GraphSeq is implemented with Scala on Spark and freely available at https://www.atgenomix.com/blog/graphseq.Supplementary information: Supplementary data are available at Bioinformatics online.



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