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

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2024年11月23日

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

摘要

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 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. KSA001 is the first telomere-to-telomere-assembled genome from a Saudi individual that is freely available for any purpose.