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

IF 5.8 2区综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES

Scientific Data Pub Date : 2024-11-23 DOI:10.1038/s41597-024-04121-2

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

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引用次数: 0

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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来自沙特个体的具有参考质量、完全注释的二倍体基因组。

我们采用多种测序方法对一名沙特阿拉伯志愿者的基因组进行测序。我们利用得到的数据生成了一个全新的基因组组装，并使用不同的计算方法来完善该组装。因此，我们提供了沙特阿拉伯个体除 Y 染色体外所有染色体的完整基因组的连续组装，并将该组装标记为 KSA001。我们从参考基因组中转移了基因组注释，对 KSA001 进行了全面注释，并采用 FAIR 数据原则在公共数据库中免费提供所有原始测序数据、组装结果和基因组注释。KSA001 是第一个从沙特个体端粒到端粒组装的基因组，可免费用于任何目的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Scientific Data Social Sciences-Education

CiteScore

11.20

自引率

4.10%

发文量

689

审稿时长

16 weeks

期刊介绍： Scientific Data is an open-access journal focused on data, publishing descriptions of research datasets and articles on data sharing across natural sciences, medicine, engineering, and social sciences. Its goal is to enhance the sharing and reuse of scientific data, encourage broader data sharing, and acknowledge those who share their data. The journal primarily publishes Data Descriptors, which offer detailed descriptions of research datasets, including data collection methods and technical analyses validating data quality. These descriptors aim to facilitate data reuse rather than testing hypotheses or presenting new interpretations, methods, or in-depth analyses.