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Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle

Inbred animals were historically chosen for genome analysis to circumvent assembly issues caused by haplotype variation but this resulted in a composite of the two genomes. Here we report a haplotype-aware scaffolding and polishing pipeline which was used to create haplotype-resolved, chromosome-lev...

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Autores principales: Low, Wai Yee, Tearle, Rick, Liu, Ruijie, Koren, Sergey, Rhie, Arang, Bickhart, Derek M., Rosen, Benjamin D., Kronenberg, Zev N., Kingan, Sarah B., Tseng, Elizabeth, Thibaud-Nissen, Françoise, Martin, Fergal J., Billis, Konstantinos, Ghurye, Jay, Hastie, Alex R., Lee, Joyce, Pang, Andy W. C., Heaton, Michael P., Phillippy, Adam M., Hiendleder, Stefan, Smith, Timothy P. L., Williams, John L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190621/
https://www.ncbi.nlm.nih.gov/pubmed/32350247
http://dx.doi.org/10.1038/s41467-020-15848-y
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author Low, Wai Yee
Tearle, Rick
Liu, Ruijie
Koren, Sergey
Rhie, Arang
Bickhart, Derek M.
Rosen, Benjamin D.
Kronenberg, Zev N.
Kingan, Sarah B.
Tseng, Elizabeth
Thibaud-Nissen, Françoise
Martin, Fergal J.
Billis, Konstantinos
Ghurye, Jay
Hastie, Alex R.
Lee, Joyce
Pang, Andy W. C.
Heaton, Michael P.
Phillippy, Adam M.
Hiendleder, Stefan
Smith, Timothy P. L.
Williams, John L.
author_facet Low, Wai Yee
Tearle, Rick
Liu, Ruijie
Koren, Sergey
Rhie, Arang
Bickhart, Derek M.
Rosen, Benjamin D.
Kronenberg, Zev N.
Kingan, Sarah B.
Tseng, Elizabeth
Thibaud-Nissen, Françoise
Martin, Fergal J.
Billis, Konstantinos
Ghurye, Jay
Hastie, Alex R.
Lee, Joyce
Pang, Andy W. C.
Heaton, Michael P.
Phillippy, Adam M.
Hiendleder, Stefan
Smith, Timothy P. L.
Williams, John L.
author_sort Low, Wai Yee
collection PubMed
description Inbred animals were historically chosen for genome analysis to circumvent assembly issues caused by haplotype variation but this resulted in a composite of the two genomes. Here we report a haplotype-aware scaffolding and polishing pipeline which was used to create haplotype-resolved, chromosome-level genome assemblies of Angus (taurine) and Brahman (indicine) cattle subspecies from contigs generated by the trio binning method. These assemblies reveal structural and copy number variants that differentiate the subspecies and that variant detection is sensitive to the specific reference genome chosen. Six genes with immune related functions have additional copies in the indicine compared with taurine lineage and an indicus-specific extra copy of fatty acid desaturase is under positive selection. The haplotyped genomes also enable transcripts to be phased to detect allele-specific expression. This work exemplifies the value of haplotype-resolved genomes to better explore evolutionary and functional variations.
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spelling pubmed-71906212020-05-01 Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle Low, Wai Yee Tearle, Rick Liu, Ruijie Koren, Sergey Rhie, Arang Bickhart, Derek M. Rosen, Benjamin D. Kronenberg, Zev N. Kingan, Sarah B. Tseng, Elizabeth Thibaud-Nissen, Françoise Martin, Fergal J. Billis, Konstantinos Ghurye, Jay Hastie, Alex R. Lee, Joyce Pang, Andy W. C. Heaton, Michael P. Phillippy, Adam M. Hiendleder, Stefan Smith, Timothy P. L. Williams, John L. Nat Commun Article Inbred animals were historically chosen for genome analysis to circumvent assembly issues caused by haplotype variation but this resulted in a composite of the two genomes. Here we report a haplotype-aware scaffolding and polishing pipeline which was used to create haplotype-resolved, chromosome-level genome assemblies of Angus (taurine) and Brahman (indicine) cattle subspecies from contigs generated by the trio binning method. These assemblies reveal structural and copy number variants that differentiate the subspecies and that variant detection is sensitive to the specific reference genome chosen. Six genes with immune related functions have additional copies in the indicine compared with taurine lineage and an indicus-specific extra copy of fatty acid desaturase is under positive selection. The haplotyped genomes also enable transcripts to be phased to detect allele-specific expression. This work exemplifies the value of haplotype-resolved genomes to better explore evolutionary and functional variations. Nature Publishing Group UK 2020-04-29 /pmc/articles/PMC7190621/ /pubmed/32350247 http://dx.doi.org/10.1038/s41467-020-15848-y Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Low, Wai Yee
Tearle, Rick
Liu, Ruijie
Koren, Sergey
Rhie, Arang
Bickhart, Derek M.
Rosen, Benjamin D.
Kronenberg, Zev N.
Kingan, Sarah B.
Tseng, Elizabeth
Thibaud-Nissen, Françoise
Martin, Fergal J.
Billis, Konstantinos
Ghurye, Jay
Hastie, Alex R.
Lee, Joyce
Pang, Andy W. C.
Heaton, Michael P.
Phillippy, Adam M.
Hiendleder, Stefan
Smith, Timothy P. L.
Williams, John L.
Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle
title Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle
title_full Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle
title_fullStr Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle
title_full_unstemmed Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle
title_short Haplotype-resolved genomes provide insights into structural variation and gene content in Angus and Brahman cattle
title_sort haplotype-resolved genomes provide insights into structural variation and gene content in angus and brahman cattle
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190621/
https://www.ncbi.nlm.nih.gov/pubmed/32350247
http://dx.doi.org/10.1038/s41467-020-15848-y
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