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An improved pig reference genome sequence to enable pig genetics and genomics research

BACKGROUND: The domestic pig (Sus scrofa) is important both as a food source and as a biomedical model given its similarity in size, anatomy, physiology, metabolism, pathology, and pharmacology to humans. The draft reference genome (Sscrofa10.2) of a purebred Duroc female pig established using older...

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Autores principales: Warr, Amanda, Affara, Nabeel, Aken, Bronwen, Beiki, Hamid, Bickhart, Derek M, Billis, Konstantinos, Chow, William, Eory, Lel, Finlayson, Heather A, Flicek, Paul, Girón, Carlos G, Griffin, Darren K, Hall, Richard, Hannum, Greg, Hourlier, Thibaut, Howe, Kerstin, Hume, David A, Izuogu, Osagie, Kim, Kristi, Koren, Sergey, Liu, Haibou, Manchanda, Nancy, Martin, Fergal J, Nonneman, Dan J, O'Connor, Rebecca E, Phillippy, Adam M, Rohrer, Gary A, Rosen, Benjamin D, Rund, Laurie A, Sargent, Carole A, Schook, Lawrence B, Schroeder, Steven G, Schwartz, Ariel S, Skinner, Ben M, Talbot, Richard, Tseng, Elizabeth, Tuggle, Christopher K, Watson, Mick, Smith, Timothy P L, Archibald, Alan L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448572/
https://www.ncbi.nlm.nih.gov/pubmed/32543654
http://dx.doi.org/10.1093/gigascience/giaa051
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author Warr, Amanda
Affara, Nabeel
Aken, Bronwen
Beiki, Hamid
Bickhart, Derek M
Billis, Konstantinos
Chow, William
Eory, Lel
Finlayson, Heather A
Flicek, Paul
Girón, Carlos G
Griffin, Darren K
Hall, Richard
Hannum, Greg
Hourlier, Thibaut
Howe, Kerstin
Hume, David A
Izuogu, Osagie
Kim, Kristi
Koren, Sergey
Liu, Haibou
Manchanda, Nancy
Martin, Fergal J
Nonneman, Dan J
O'Connor, Rebecca E
Phillippy, Adam M
Rohrer, Gary A
Rosen, Benjamin D
Rund, Laurie A
Sargent, Carole A
Schook, Lawrence B
Schroeder, Steven G
Schwartz, Ariel S
Skinner, Ben M
Talbot, Richard
Tseng, Elizabeth
Tuggle, Christopher K
Watson, Mick
Smith, Timothy P L
Archibald, Alan L
author_facet Warr, Amanda
Affara, Nabeel
Aken, Bronwen
Beiki, Hamid
Bickhart, Derek M
Billis, Konstantinos
Chow, William
Eory, Lel
Finlayson, Heather A
Flicek, Paul
Girón, Carlos G
Griffin, Darren K
Hall, Richard
Hannum, Greg
Hourlier, Thibaut
Howe, Kerstin
Hume, David A
Izuogu, Osagie
Kim, Kristi
Koren, Sergey
Liu, Haibou
Manchanda, Nancy
Martin, Fergal J
Nonneman, Dan J
O'Connor, Rebecca E
Phillippy, Adam M
Rohrer, Gary A
Rosen, Benjamin D
Rund, Laurie A
Sargent, Carole A
Schook, Lawrence B
Schroeder, Steven G
Schwartz, Ariel S
Skinner, Ben M
Talbot, Richard
Tseng, Elizabeth
Tuggle, Christopher K
Watson, Mick
Smith, Timothy P L
Archibald, Alan L
author_sort Warr, Amanda
collection PubMed
description BACKGROUND: The domestic pig (Sus scrofa) is important both as a food source and as a biomedical model given its similarity in size, anatomy, physiology, metabolism, pathology, and pharmacology to humans. The draft reference genome (Sscrofa10.2) of a purebred Duroc female pig established using older clone-based sequencing methods was incomplete, and unresolved redundancies, short-range order and orientation errors, and associated misassembled genes limited its utility. RESULTS: We present 2 annotated highly contiguous chromosome-level genome assemblies created with more recent long-read technologies and a whole-genome shotgun strategy, 1 for the same Duroc female (Sscrofa11.1) and 1 for an outbred, composite-breed male (USMARCv1.0). Both assemblies are of substantially higher (>90-fold) continuity and accuracy than Sscrofa10.2. CONCLUSIONS: These highly contiguous assemblies plus annotation of a further 11 short-read assemblies provide an unprecedented view of the genetic make-up of this important agricultural and biomedical model species. We propose that the improved Duroc assembly (Sscrofa11.1) become the reference genome for genomic research in pigs.
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spelling pubmed-74485722020-08-28 An improved pig reference genome sequence to enable pig genetics and genomics research Warr, Amanda Affara, Nabeel Aken, Bronwen Beiki, Hamid Bickhart, Derek M Billis, Konstantinos Chow, William Eory, Lel Finlayson, Heather A Flicek, Paul Girón, Carlos G Griffin, Darren K Hall, Richard Hannum, Greg Hourlier, Thibaut Howe, Kerstin Hume, David A Izuogu, Osagie Kim, Kristi Koren, Sergey Liu, Haibou Manchanda, Nancy Martin, Fergal J Nonneman, Dan J O'Connor, Rebecca E Phillippy, Adam M Rohrer, Gary A Rosen, Benjamin D Rund, Laurie A Sargent, Carole A Schook, Lawrence B Schroeder, Steven G Schwartz, Ariel S Skinner, Ben M Talbot, Richard Tseng, Elizabeth Tuggle, Christopher K Watson, Mick Smith, Timothy P L Archibald, Alan L Gigascience Research BACKGROUND: The domestic pig (Sus scrofa) is important both as a food source and as a biomedical model given its similarity in size, anatomy, physiology, metabolism, pathology, and pharmacology to humans. The draft reference genome (Sscrofa10.2) of a purebred Duroc female pig established using older clone-based sequencing methods was incomplete, and unresolved redundancies, short-range order and orientation errors, and associated misassembled genes limited its utility. RESULTS: We present 2 annotated highly contiguous chromosome-level genome assemblies created with more recent long-read technologies and a whole-genome shotgun strategy, 1 for the same Duroc female (Sscrofa11.1) and 1 for an outbred, composite-breed male (USMARCv1.0). Both assemblies are of substantially higher (>90-fold) continuity and accuracy than Sscrofa10.2. CONCLUSIONS: These highly contiguous assemblies plus annotation of a further 11 short-read assemblies provide an unprecedented view of the genetic make-up of this important agricultural and biomedical model species. We propose that the improved Duroc assembly (Sscrofa11.1) become the reference genome for genomic research in pigs. Oxford University Press 2020-06-16 /pmc/articles/PMC7448572/ /pubmed/32543654 http://dx.doi.org/10.1093/gigascience/giaa051 Text en © The Author(s) 2020. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Warr, Amanda
Affara, Nabeel
Aken, Bronwen
Beiki, Hamid
Bickhart, Derek M
Billis, Konstantinos
Chow, William
Eory, Lel
Finlayson, Heather A
Flicek, Paul
Girón, Carlos G
Griffin, Darren K
Hall, Richard
Hannum, Greg
Hourlier, Thibaut
Howe, Kerstin
Hume, David A
Izuogu, Osagie
Kim, Kristi
Koren, Sergey
Liu, Haibou
Manchanda, Nancy
Martin, Fergal J
Nonneman, Dan J
O'Connor, Rebecca E
Phillippy, Adam M
Rohrer, Gary A
Rosen, Benjamin D
Rund, Laurie A
Sargent, Carole A
Schook, Lawrence B
Schroeder, Steven G
Schwartz, Ariel S
Skinner, Ben M
Talbot, Richard
Tseng, Elizabeth
Tuggle, Christopher K
Watson, Mick
Smith, Timothy P L
Archibald, Alan L
An improved pig reference genome sequence to enable pig genetics and genomics research
title An improved pig reference genome sequence to enable pig genetics and genomics research
title_full An improved pig reference genome sequence to enable pig genetics and genomics research
title_fullStr An improved pig reference genome sequence to enable pig genetics and genomics research
title_full_unstemmed An improved pig reference genome sequence to enable pig genetics and genomics research
title_short An improved pig reference genome sequence to enable pig genetics and genomics research
title_sort improved pig reference genome sequence to enable pig genetics and genomics research
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448572/
https://www.ncbi.nlm.nih.gov/pubmed/32543654
http://dx.doi.org/10.1093/gigascience/giaa051
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