دورية أكاديمية

A pangenome graph reference of 30 chicken genomes allows genotyping of large and complex structural variants

التفاصيل البيبلوغرافية
العنوان: A pangenome graph reference of 30 chicken genomes allows genotyping of large and complex structural variants
المؤلفون: Edward S. Rice, Antton Alberdi, James Alfieri, Giridhar Athrey, Jennifer R. Balacco, Philippe Bardou, Heath Blackmon, Mathieu Charles, Hans H. Cheng, Olivier Fedrigo, Steven R. Fiddaman, Giulio Formenti, Laurent A. F. Frantz, M. Thomas P. Gilbert, Cari J. Hearn, Erich D. Jarvis, Christophe Klopp, Sofia Marcos, Andrew S. Mason, Deborah Velez-Irizarry, Luohao Xu, Wesley C. Warren
المصدر: BMC Biology, Vol 21, Iss 1, Pp 1-17 (2023)
بيانات النشر: BMC, 2023.
سنة النشر: 2023
المجموعة: LCC:Biology (General)
مصطلحات موضوعية: Gallus gallus, K locus, IGLL1, ev21, Biology (General), QH301-705.5
الوصف: Abstract Background The red junglefowl, the wild outgroup of domestic chickens, has historically served as a reference for genomic studies of domestic chickens. These studies have provided insight into the etiology of traits of commercial importance. However, the use of a single reference genome does not capture diversity present among modern breeds, many of which have accumulated molecular changes due to drift and selection. While reference-based resequencing is well-suited to cataloging simple variants such as single-nucleotide changes and short insertions and deletions, it is mostly inadequate to discover more complex structural variation in the genome. Methods We present a pangenome for the domestic chicken consisting of thirty assemblies of chickens from different breeds and research lines. Results We demonstrate how this pangenome can be used to catalog structural variants present in modern breeds and untangle complex nested variation. We show that alignment of short reads from 100 diverse wild and domestic chickens to this pangenome reduces reference bias by 38%, which affects downstream genotyping results. This approach also allows for the accurate genotyping of a large and complex pair of structural variants at the K feathering locus using short reads, which would not be possible using a linear reference. Conclusions We expect that this new paradigm of genomic reference will allow better pinpointing of exact mutations responsible for specific phenotypes, which will in turn be necessary for breeding chickens that meet new sustainability criteria and are resilient to quickly evolving pathogen threats.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1741-7007
Relation: https://doaj.org/toc/1741-7007
DOI: 10.1186/s12915-023-01758-0
URL الوصول: https://doaj.org/article/ec4f115e8cb94416b00a87c078953189
رقم الأكسشن: edsdoj.4f115e8cb94416b00a87c078953189
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:17417007
DOI:10.1186/s12915-023-01758-0