De novo assembly of the cattle reference genome with single-molecule sequencing

利用单分子测序对牛参考基因组进行从头组装

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作者:Benjamin D Rosen, Derek M Bickhart, Robert D Schnabel, Sergey Koren, Christine G Elsik, Elizabeth Tseng, Troy N Rowan, Wai Y Low, Aleksey Zimin, Christine Couldrey, Richard Hall, Wenli Li, Arang Rhie, Jay Ghurye, Stephanie D McKay, Françoise Thibaud-Nissen, Jinna Hoffman, Brenda M Murdoch, Warren M

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 These tools depend upon the Bos taurus reference genome (UMD3.1.1), which was created using now-outdated technologies and is hindered by a variety of deficiencies and inaccuracies.

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.

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.

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