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

AI Article Synopsis

  • Scientists sequenced and assembled the complete genome of a volunteer from Saudi Arabia, creating a model named KSA001, which includes nearly all chromosomes except chromosome Y.* -
  • The assembly was refined using various computational techniques and transferred annotations from existing reference genomes to fully describe KSA001.* -
  • All data, including primary sequencing, the genome assembly, and annotations, are made publicly available under FAIR data principles, marking KSA001 as the first fully available telomere-to-telomere genome from a Saudi individual.*

Article 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 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11585617PMC
http://dx.doi.org/10.1038/s41597-024-04121-2DOI Listing

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