{"about":{"site":"https://codewithpapers.app","non_affiliation":"Code with Papers and Syntology are not affiliated with, endorsed by, or sponsored by Papers with Code, Meta, or the pwc-archive mirror.","licence":"CC BY-SA 4.0","licence_url":"https://creativecommons.org/licenses/by-sa/4.0/legalcode","attribution":"https://codewithpapers.app/attribution","modified":"archive material modified by Syntology; see the attribution page"},"url":"/paper/the-qatar-genome-a-population-specific-tool","title":"The Qatar Genome: A Population-Specific Tool for Precision Medicine in the Middle East","arxiv_id":"1805.03233","date":"2018-05-08","proceeding":null,"authors":["Khalid A. Fakhro","Michelle R. Staudt","Monica Denise Ramstetter","Amal Robay","Joel A. Malek","Ramin Badii","Ajayeb Al-Nabet Al-Marri","Charbel Abi Khalil","Alya Al-Shakaki","Omar Chidiac","Dora Stadler","Mahmoud Zirie","Amin Jayyousi","Jacqueline Salit","Jason G. Mezey","Ronald G. Crystal","Juan L. Rodriguez-Flores"],"abstract":"Reaching the full potential of precision medicine depends on the quality of\npersonalized genome interpretation. In order to facilitate precision medicine\nin regions of the Middle East and North Africa (MENA), a population-specific\nreference genome for the indigenous Arab popula-tion of Qatar (QTRG) was\nconstructed by incorporating allele frequency data from sequencing of 1,161\nQataris, representing 0.4% of the population. A total of 20.9 million SNP and\n3.1 million indels were observed in Qatar, including an average of 1.79% novel\nvariants per individual ge-nome. Replacement of the GRCh37 standard reference\nwith QTRG in a best practices genome analysis workflow resulted in an average\nof 7* deeper coverage depth (an improvement of 23%), and 756,671 fewer variants\non average, a reduction of 16% that is attributed to common Qatari alleles\nbeing present in the QTRG reference. The benefit for using QTRG varies across\nances-tries, a factor that should be taken into consideration when selecting an\nappropriate reference for analysis.","url_abs":"http://arxiv.org/abs/1805.03233v2","url_pdf":"http://arxiv.org/pdf/1805.03233v2.pdf","source":{"archive":"pwc-archive (Hugging Face), CC BY-SA 4.0","snapshot":"2025-07-28","licence_url":"https://creativecommons.org/licenses/by-sa/4.0/legalcode","row_kind":"abstracts"},"code_links":[{"paper_slug":"the-qatar-genome-a-population-specific-tool","repo_url":"https://github.com/opentargets/genetics-v2d-data","is_official":0,"mentioned_in_paper":0,"mentioned_in_github":1,"framework":"none","reach":null},{"paper_slug":"the-qatar-genome-a-population-specific-tool","repo_url":"https://github.com/opentargets/v2d_data","is_official":0,"mentioned_in_paper":0,"mentioned_in_github":1,"framework":"none","reach":null}],"tasks":[],"methods":[],"datasets_introduced":[],"methods_introduced":[],"results":[],"syntology":{"atlas_url":null,"mcp":null,"developers":"https://syntology.ai/developers"},"arxiv_metadata":null,"syntology_extracted_results":null}