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
{"title":"A reference quality, fully annotated diploid genome from a Saudi individual.","authors":"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","doi":"10.1038/s41597-024-04121-2","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":21597,"journal":{"name":"Scientific Data","volume":"11 1","pages":"1278"},"PeriodicalIF":5.8000,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Scientific Data","FirstCategoryId":"103","ListUrlMain":"https://doi.org/10.1038/s41597-024-04121-2","RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MULTIDISCIPLINARY SCIENCES","Score":null,"Total":0}
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.
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.