{"id":11043,"date":"2023-03-30T12:39:19","date_gmt":"2023-03-30T16:39:19","guid":{"rendered":"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/?p=11043"},"modified":"2023-03-30T14:32:15","modified_gmt":"2023-03-30T18:32:15","slug":"dbsnp-scalability-diversity-accessibility","status":"publish","type":"post","link":"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2023\/03\/30\/dbsnp-scalability-diversity-accessibility\/","title":{"rendered":"dbSNP Enhances Scalability, Data Diversity, and Accessibility"},"content":{"rendered":"<p><span data-contrast=\"none\">As part of the <\/span><a href=\"https:\/\/en.wikipedia.org\/wiki\/Human_Genome_Project\"><span data-contrast=\"none\">Human Genome Project<\/span><\/a><span data-contrast=\"none\">, NCBI, part of the National Library of Medicine, and the National Human Genome Research Institute (NHGRI) <\/span><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/10447503\/?utm_source=ncbi_insights&amp;utm_medium=referral&amp;utm_campaign=dbsnp-enhancements-20230330\"><span data-contrast=\"none\">established the Single Nucleotide Polymorphism database<\/span><\/a> (<span data-contrast=\"none\">dbSNP) in 1998. Over the last 25 years, dbSNP has evolved into a reliable central public repository for genetic variation data. dbSNP is a community-accepted reference data set for genetic research, analysis pipelines, and for both open-source and commercial tools. It is also an essential part of genetic research and discovery. For example, dbSNP data are used in nearly all human genetic variation research workflows and it serves as the foundation for commercially available ancestry testing products. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/p>\n<h5>Current dbSNP statistics include:<\/h5>\n<ul>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559684&quot;:-2,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" aria-setsize=\"-1\" data-aria-posinset=\"1\" data-aria-level=\"1\"><span data-contrast=\"none\">3,800 submitters from all over the world<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559684&quot;:-2,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" aria-setsize=\"-1\" data-aria-posinset=\"2\" data-aria-level=\"1\"><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">3.3 billion submitted SNP records <\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559684&quot;:-2,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" aria-setsize=\"-1\" data-aria-posinset=\"2\" data-aria-level=\"1\"><span data-contrast=\"none\">1.1 billion Reference SNP records<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559684&quot;:-2,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" aria-setsize=\"-1\" data-aria-posinset=\"2\" data-aria-level=\"1\"><span data-contrast=\"none\">1.0 billion Reference SNP records with population frequency<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"1\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559684&quot;:-2,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" aria-setsize=\"-1\" data-aria-posinset=\"2\" data-aria-level=\"1\"><span data-contrast=\"none\">dbSNP accessions are cited in over 65K publications<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/li>\n<\/ul>\n<p><!--more--><\/p>\n<h5>What\u2019s new?<\/h5>\n<p><span data-contrast=\"auto\">We have made numerous improvements to make molecular variation more accessible for physical mapping, population genetics, investigations into evolutionary relationships, genome wide association, and quickly quantifying the amount of variation at a given site of interest.\u00a0<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\">We have fundamentally improved our infrastructure <\/span><span data-contrast=\"auto\">and <\/span><span data-contrast=\"auto\">the underlying technology <\/span><span data-contrast=\"auto\">and <\/span><span data-contrast=\"auto\">data release processes. This makes dbSNP more reliable <\/span><span data-contrast=\"auto\">and <\/span><span data-contrast=\"auto\">efficient to cope with the large amounts of data <\/span><span data-contrast=\"auto\">and <\/span><span data-contrast=\"auto\">exponential growth over the last few years. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/p>\n<p><span data-contrast=\"auto\">We created Allele Frequency Aggregator (<\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/snp\/docs\/gsr\/alfa\/?utm_source=ncbi_insights&amp;utm_medium=referral&amp;utm_campaign=dbsnp-enhancements-20230330\"><span data-contrast=\"none\">ALFA<\/span><\/a><span data-contrast=\"auto\">) to provide more granular allele frequencies for populations derived from 198K subjects, with the goal of 1M subjects, from dbGaP controlled-access studies. ALFA will improve the discovery of common and uncommon variations that have biological effects or contribute to disease. These data included chip array, exome, and genomic sequencing data from 12 distinct populations, including European, African, Asian, and Latin American subjects. We put these data into regular dbSNP build releases and ALFA data into RefSeq. ALFA can be accessed via the <\/span><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/snp\/docs\/entrez_help\/?utm_source=ncbi_insights&amp;utm_medium=referral&amp;utm_campaign=dbsnp-enhancements-20230330\"><span data-contrast=\"none\">browser<\/span><\/a><span data-contrast=\"auto\">, <\/span><a href=\"https:\/\/ftp.ncbi.nih.gov\/snp\/population_frequency\/\"><span data-contrast=\"none\">FTP<\/span><\/a><span data-contrast=\"auto\">, <\/span><a href=\"https:\/\/api.ncbi.nlm.nih.gov\/variation\/v0\/?utm_source=ncbi_insights&amp;utm_medium=referral&amp;utm_campaign=dbsnp-enhancements-20230330#\/ALFA%20Frequency\"><span data-contrast=\"none\">API<\/span><\/a><span data-contrast=\"auto\">, and <\/span><a href=\"https:\/\/ftp.ncbi.nlm.nih.gov\/snp\/population_frequency\/TrackHub\/latest\/\"><span data-contrast=\"none\">TrackHub<\/span><\/a><span data-contrast=\"auto\">. \u00a0On <\/span><a href=\"https:\/\/github.com\/ncbi\/dbsnp\/tree\/master\/tutorials\"><span data-contrast=\"none\">GitHub<\/span><\/a><span data-contrast=\"auto\">, we have tutorials and code examples to help with programming.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/p>\n<div class=\"jetpack-video-wrapper\"><iframe loading=\"lazy\" title=\"NCBI ALFA\" width=\"1108\" height=\"623\" src=\"https:\/\/www.youtube.com\/embed\/Dzirw1Fxa3w?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe><\/div>\n<h5>Next steps<\/h5>\n<ul>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"2\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559684&quot;:-2,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" aria-setsize=\"-1\" data-aria-posinset=\"1\" data-aria-level=\"1\"><span data-contrast=\"none\">The data will continue to grow by leaps and bounds over the next 25 years.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"2\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559684&quot;:-2,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" aria-setsize=\"-1\" data-aria-posinset=\"2\" data-aria-level=\"1\"><span data-contrast=\"none\">We intend to\u00a0diversify the data by including genotype frequencies.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/li>\n<li data-leveltext=\"\uf0b7\" data-font=\"Symbol\" data-listid=\"2\" data-list-defn-props=\"{&quot;335552541&quot;:1,&quot;335559684&quot;:-2,&quot;335559685&quot;:720,&quot;335559991&quot;:360,&quot;469769226&quot;:&quot;Symbol&quot;,&quot;469769242&quot;:[8226],&quot;469777803&quot;:&quot;left&quot;,&quot;469777804&quot;:&quot;\uf0b7&quot;,&quot;469777815&quot;:&quot;hybridMultilevel&quot;}\" aria-setsize=\"-1\" data-aria-posinset=\"2\" data-aria-level=\"1\"><span data-contrast=\"none\">We will make the data more useful to you by making it easier to find and packaging it in consumable formats.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/li>\n<\/ul>\n<p><span data-contrast=\"none\">Thank you to our submitters who\u2019ve shared data and to everyone who\u2019s contributed to the success of dbSNP. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/p>\n<h5>Stay up to date<\/h5>\n<p><span data-contrast=\"auto\">Follow us on Twitter\u202f<\/span><a href=\"https:\/\/twitter.com\/ncbi\"><span data-contrast=\"auto\">@NCBI<\/span><\/a><span data-contrast=\"auto\">\u202fand\u202f<\/span><a href=\"https:\/\/public.govdelivery.com\/accounts\/USNLMOCPL\/subscriber\/new?topic_id=USNLMOCPL_52\"><span data-contrast=\"auto\">join our mailing list<\/span><\/a><span data-contrast=\"auto\">\u202fto keep up to date with\u202fdbSNP\u202fand other NCBI news.\u202f\u202f<\/span><span data-ccp-props=\"{&quot;134233117&quot;:false,&quot;134233118&quot;:false,&quot;201341983&quot;:0,&quot;335559738&quot;:150,&quot;335559739&quot;:0,&quot;335559740&quot;:240}\">\u00a0<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/p>\n<h5>We want to hear from you!<\/h5>\n<p><span data-contrast=\"auto\">If you have questions or would like to provide feedback, please reach out to us at <\/span><a href=\"mailto:snp-admin@ncbi.nlm.nih.gov\"><span data-contrast=\"auto\">snp-admin@ncbi.nlm.nih.gov<\/span><\/a><span data-contrast=\"auto\">. Let us know how dbSNP has aided you in your work!\u00a0<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:259}\">\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>As part of the Human Genome Project, NCBI, part of the National Library of Medicine, and the National Human Genome Research Institute (NHGRI) established the Single Nucleotide Polymorphism database (dbSNP) in 1998. Over the last 25 years, dbSNP has evolved into a reliable central public repository for genetic variation data. dbSNP is a community-accepted reference &hellip; <a href=\"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2023\/03\/30\/dbsnp-scalability-diversity-accessibility\/\" class=\"more-link\">Continue reading <span class=\"screen-reader-text\">dbSNP Enhances Scalability, Data Diversity, and Accessibility<\/span> <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":42204617,"featured_media":11049,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","jetpack_post_was_ever_published":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"dbSNP Enhances Scalability, Data Diversity, and Accessibility","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","enabled":false},"version":2}},"categories":[2248],"tags":[10192294],"table_tags":[],"class_list":["post-11043","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-whats-new","tag-dbsnp"],"jetpack_publicize_connections":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>dbSNP Enhances Scalability, Data Diversity, and Accessibility - NCBI Insights<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ncbiinsights.ncbi.nlm.nih.gov\/2023\/03\/30\/dbsnp-scalability-diversity-accessibility\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"dbSNP Enhances Scalability, Data Diversity, and Accessibility - NCBI Insights\" \/>\n<meta property=\"og:description\" content=\"As part of the Human Genome Project, NCBI, part of the National Library of Medicine, and the National Human Genome Research Institute (NHGRI) established the Single Nucleotide Polymorphism database (dbSNP) in 1998. 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