A personal, reference quality, fully annotated genome from a Saudi individual

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Authors
Kulmanov, Maxat cc
Tawfiq, Rund cc
Al Ali, Hatoon cc
Abdelhakim, Marwa cc
Alarawi, Mohammed cc
Aldakhil, Hind cc
Alhattab, Dana Majed cc
Alsolme, Ebtehal cc
Althagafi, Azza Th. cc
Angelov, Angel cc
Bougouffa, Salim cc
Driguez, Patrick cc
Liu, Yang cc
Park, Changsook cc
Putra, Alexander cc
Reyes-Ramos, Ana M cc
Hauser, Charlotte cc
Cheung, Ming Sin cc
Abedalthagafi, Malak S cc
Hoehndorf, Robert cc
KAUST Department
Bio-Ontology Research Group (BORG)
Bioengineering Program
Biological and Environmental Science and Engineering (BESE) Division
Biological and Environmental Sciences & Engineering (BESE) Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
Bioscience Core Lab
Bioscience Program
Computational Bioscience Research Center (CBRC)
Computer Science Program
Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division
Computer, Electrical and Mathematical Sciences & Engineering (CEMSE) Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
Laboratory for Nanomedicine, Biological and Environmental Science & Engineering (BESE) Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia
Sanger and Third Generation Sequencing
KAUST Grant Number
FCC/1/1976-34-01
URF/1/4697-01-01
URF/1/4355-01-01
URF/1/4675-01-01
FCC/1/1976-46-01
Date
2022-11-08
Permanent link to this record
http://hdl.handle.net/10754/685764

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Abstract
We have used multiple sequencing approaches to sequence the genome of a volunteer from Saudi Arabia. We use the resulting data to generate a de novo assembly of the genome, and use different computational approaches to refine the assembly. As a consequence, we provide a continguous assembly of the complete genome of an individual from Saudi Arabia for all chromosomes except chromosome Y, and label this assembly KSA001. We transferred genome annotations from reference genomes and predicted genome features using methods from Artificial Intelligence to fully annotate KSA001, and we make all primary sequencing data, the assembly, and the genome annotations freely available in public databases using the FAIR data principles.
Citation
Kulmanov, M., Tawfiq, R., Al Ali, H., Abdelhakim, M., Alarawi, M., Aldakhil, H., Alhattab, D., Alsolme, E., Althagafi, A., Angelov, A., Bougouffa, S., Driguez, P., Liu, Y., Park, C., Putra, A., Reyes-Ramos, A. M., Hauser, C. A. E., Cheung, M. S., Abedalthagafi, M. S., & Hoehndorf, R. (2022). A personal, reference quality, fully annotated genome from a Saudi individual. https://doi.org/10.1101/2022.11.05.515129
Sponsors
This work has been supported by funding from King Abdullah University of Science and Technology (KAUST) Office of Sponsored Research (OSR) under Award No. URF/1/4355-01-01, URF/1/4675-01-01, URF/1/4697-01-01, FCC/1/1976-46-01 and FCC/1/1976-34-01. MSA is supported by King Salman Center for disability research grant R-20190016. We acknowledge support from the KAUST Supercomputing Laboratory, and support from the KAUST Bioscience Core Laboratory.
Publisher
Cold Spring Harbor Laboratory
DOI
10.1101/2022.11.05.515129
Additional Links
http://biorxiv.org/lookup/doi/10.1101/2022.11.05.515129
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Bio-Ontology Research Group (BORG); Bioengineering Program; Biological and Environmental Science and Engineering (BESE) Division; Preprints; Bioscience Program; Computer Science Program; Computational Bioscience Research Center (CBRC); Bioscience Core Lab; Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division
This is a preprint version of a paper and has not been peer reviewed. Archived with thanks to Cold Spring Harbor Laboratory. available under a CC-BY 4.0 International license http://creativecommons.org/licenses/by-nc-nd/4.0/
Except where otherwise noted, this item's license is described as This is a preprint version of a paper and has not been peer reviewed. Archived with thanks to Cold Spring Harbor Laboratory. available under a CC-BY 4.0 International license http://creativecommons.org/licenses/by-nc-nd/4.0/