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

Maxat Kulmanov; Rund Tawfiq; Hatoon Al Ali; Marwa Abdelhakim; Mohammed S. Alarawi; Hind Aldakhil; Dana M. Alhattab; Ebtehal A. Alsolme; Azza Althagafi; Angel Angelov; Salim Bougouffa; Patrick Driguez; Yang Liu; Changsook Park; Alexander Putra; Ana M. Reyes-Ramos; Charlotte A. E. Hauser; Ming Sin Cheung; Malak Abedalthagafi; Robert Hoehndorf

doi:10.1101/2022.11.05.515129

BioinformaticsbioRxivNov 5, 2022

Preprint

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

Maxat Kulmanov iD, Rund Tawfiq iD, Hatoon Al Ali iD, Marwa Abdelhakim iD, Mohammed S. Alarawi iD, Hind Aldakhil iD, Dana M. Alhattab iD, Ebtehal A. Alsolme iD, Azza Althagafi iD, Angel Angelov iD, Salim Bougouffa iD, Patrick Driguez iD, Yang Liu iD, Changsook Park iD, Alexander Putra iD, Ana M. Reyes-Ramos iD, Charlotte A. E. Hauser iD, Ming Sin Cheung iD, Malak Abedalthagafi iD, Robert Hoehndorf iD

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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