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

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.

2022-11-08 bioinformatics
10.1101/2022.11.05.515129 bioRxiv
Show 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 contiguous 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.

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