{"id":3972,"date":"2025-09-22T15:42:01","date_gmt":"2025-09-22T13:42:01","guid":{"rendered":"https:\/\/www.esptcongress.org\/?page_id=3972"},"modified":"2025-09-22T15:42:30","modified_gmt":"2025-09-22T13:42:30","slug":"milani-lili","status":"publish","type":"page","link":"https:\/\/www.esptcongress.org\/index.php\/milani-lili\/","title":{"rendered":"Milani Lili"},"content":{"rendered":"<div class=\"wpb-content-wrapper\"><p>[vc_row][vc_column width=&#8221;1\/4&#8243;]<style type=\"text\/css\" data-type=\"the7_shortcodes-inline-css\">.shortcode-single-image-wrap.shortcode-single-image-83feef60054e0ed89eaa8d63b0cec926.enable-bg-rollover .rollover i,\n.shortcode-single-image-wrap.shortcode-single-image-83feef60054e0ed89eaa8d63b0cec926.enable-bg-rollover .rollover-video i {\n  background: -webkit-linear-gradient();\n  background: linear-gradient();\n}\n.shortcode-single-image-wrap.shortcode-single-image-83feef60054e0ed89eaa8d63b0cec926 .rollover-icon {\n  font-size: 32px;\n  color: #ffffff;\n  min-width: 44px;\n  min-height: 44px;\n  line-height: 44px;\n  border-radius: 100px;\n  border-style: solid;\n  border-width: 0px;\n}\n.dt-icon-bg-on.shortcode-single-image-wrap.shortcode-single-image-83feef60054e0ed89eaa8d63b0cec926 .rollover-icon {\n  background: rgba(255,255,255,0.3);\n  box-shadow: none;\n}<\/style><div class=\"shortcode-single-image-wrap shortcode-single-image-83feef60054e0ed89eaa8d63b0cec926 alignnone  vc_custom_1758548463316 enable-bg-rollover dt-icon-bg-off\" ><div class=\"shortcode-single-image\"><div class=\"fancy-media-wrap  layzr-bg\" style=\"\"><img fetchpriority=\"high\" decoding=\"async\" class=\"preload-me lazy-load aspect\" src=\"data:image\/svg+xml,%3Csvg%20xmlns%3D&#39;http%3A%2F%2Fwww.w3.org%2F2000%2Fsvg&#39;%20viewBox%3D&#39;0%200%20500%20500&#39;%2F%3E\" data-src=\"https:\/\/www.esptcongress.org\/wp-content\/uploads\/2025\/09\/Milani_foto-500x500.jpeg\" data-srcset=\"https:\/\/www.esptcongress.org\/wp-content\/uploads\/2025\/09\/Milani_foto-500x500.jpeg 500w, https:\/\/www.esptcongress.org\/wp-content\/uploads\/2025\/09\/Milani_foto-1000x1000.jpeg 1000w\" loading=\"eager\" sizes=\"(max-width: 500px) 100vw, 500px\" width=\"500\" height=\"500\"  data-dt-location=\"https:\/\/www.esptcongress.org\/index.php\/speakers\/milani_foto\/\" style=\"--ratio: 500 \/ 500;\" alt=\"\" \/><\/div><\/div><\/div><div class=\"standard-arrow list-divider bullet-top\"><ul>\n<li>Dr. Milani Lili, PhD<\/li>\n<\/ul>\n<\/div>[\/vc_column][vc_column width=&#8221;3\/4&#8243;]<div id=\"ultimate-heading-251869f2fb0d8df1a\" class=\"uvc-heading ult-adjust-bottom-margin ultimate-heading-251869f2fb0d8df1a uvc-8900 color-title accent-title-color uvc-heading-default-font-sizes\" data-hspacer=\"no_spacer\"  data-halign=\"left\" style=\"text-align:left\"><div class=\"uvc-heading-spacer no_spacer\" style=\"top\"><\/div><div class=\"uvc-main-heading ult-responsive\"  data-ultimate-target='.uvc-heading.ultimate-heading-251869f2fb0d8df1a h2'  data-responsive-json-new='{\"font-size\":\"\",\"line-height\":\"\"}' ><h2 style=\"--font-weight:theme;\">CV<\/h2><\/div><div class=\"uvc-sub-heading ult-responsive\"  data-ultimate-target='.uvc-heading.ultimate-heading-251869f2fb0d8df1a .uvc-sub-heading '  data-responsive-json-new='{\"font-size\":\"\",\"line-height\":\"\"}'  style=\"font-weight:normal;\">Lili Milani is the Head of the Estonian Biobank and professor of pharmacogenomics at the University of Tartu. She has a PhD degree in molecular medicine from Uppsala University, Sweden.<\/p>\n<p>Her research focuses on the prevention and treatment of cardiovascular diseases, psychiatric conditions and how genetic variation can influence drug response, including adverse drug reactions.<\/p>\n<p>She managed the development of the MyGenome portal, which was launched in June 2024 and gave over 200,000 biobank participants access to their genetic data, including pharmacogenomic reports, in an engaging and meaningful way.<\/p>\n<p>Additionally, Lili is actively involved in national projects aimed at integrating genetic data into the healthcare system, ensuring that genetic data is utilized to its fullest potential.<\/div><\/div><div id=\"ultimate-heading-317469f2fb0d8df7b\" class=\"uvc-heading ult-adjust-bottom-margin ultimate-heading-317469f2fb0d8df7b uvc-1728 color-title accent-title-color uvc-heading-default-font-sizes\" data-hspacer=\"no_spacer\"  data-halign=\"left\" style=\"text-align:left\"><div class=\"uvc-heading-spacer no_spacer\" style=\"top\"><\/div><div class=\"uvc-main-heading ult-responsive\"  data-ultimate-target='.uvc-heading.ultimate-heading-317469f2fb0d8df7b h2'  data-responsive-json-new='{\"font-size\":\"\",\"line-height\":\"\"}' ><h2 style=\"--font-weight:theme;margin-top:50px;\">ABSTRACT<\/h2><\/div><div class=\"uvc-sub-heading ult-responsive\"  data-ultimate-target='.uvc-heading.ultimate-heading-317469f2fb0d8df7b .uvc-sub-heading '  data-responsive-json-new='{\"font-size\":\"\",\"line-height\":\"\"}'  style=\"font-weight:normal;\"><strong>Long read sequencing and return of results to biobank participants <\/strong><\/p>\n<p>Lili Milani<sup>1<\/sup>, Kristi Krebs<sup>1<\/sup>, Maarja J\u00f5eloo<sup>1<\/sup>, Georgi Hudjashov<sup>1,2<\/sup>, Maris Alver<sup>1<\/sup>, Robin Hofmeister<sup>1<\/sup>, Burak Yelmen<sup>1<\/sup>, Viktorija Kuku\u0161kina<sup>1<\/sup>, Reedik M\u00e4gi<sup>1<\/sup>, James M. Holt<sup>3<\/sup>, Egor Dolzhenko<sup>3<\/sup>, Michael A Eberle<sup>3<\/sup>, Mait Metspalu<sup>2<\/sup><\/p>\n<p>Affiliations:<\/p>\n<ol>\n<li>Estonian Genome Centre, Institute of Genomics, University of Tartu<\/li>\n<li>Estonian Biocentre, Institute of Genomics, University of Tartu<\/li>\n<\/ol>\n<ol start=\"3\">\n<li>PacBio, Menlo Park, CA 94025, USA<\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<p>The Estonian Biobank is a volunteer-based resource that links the genomic data and extensive electronic health records of 212,000 individuals. The database contains detailed information on prescribed and purchased medications, and self-reported treatment outcomes. Midway through the sequencing of the genomes of 10,000 participants using PacBio\u2019s HiFi long-read technology, we observe an abundance of novel genetic variants and an enhanced resolution of structural variants (SVs) commonly missed by short-read sequencing and genotyping methods. The long reads have, for example, enabled improved phasing of the CYP2D6-CYP2D7 locus, revealing that the *68 hybrid gene occurs in tandem with *4 in most cases (allele frequency 5.8%), but also in tandem with functional alleles (*1, *2, or *35) in several individuals. A unique feature of the biobank is the possibility to recontact individuals for follow-up studies based on specific genetic findings, and the recently launched participant portal <em>MyGenome<\/em>, which contains personalized pharmacogenetic reports, disease risk information, and educational content. To date, over 106,000 participants have accessed their results, and their feedback has been remarkably positive. In this talk, I will present an overview of these efforts, what challenges we faced along the way, and how they were overcome.<\/p>\n<p>&nbsp;<\/p>\n<p><\/div><\/div>[\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column width=&#8221;1\/4&#8243;][\/vc_column][vc_column width=&#8221;3\/4&#8243;][\/vc_column][\/vc_row]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-3972","page","type-page","status-publish","hentry","description-off"],"_links":{"self":[{"href":"https:\/\/www.esptcongress.org\/index.php\/wp-json\/wp\/v2\/pages\/3972","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.esptcongress.org\/index.php\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.esptcongress.org\/index.php\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.esptcongress.org\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.esptcongress.org\/index.php\/wp-json\/wp\/v2\/comments?post=3972"}],"version-history":[{"count":3,"href":"https:\/\/www.esptcongress.org\/index.php\/wp-json\/wp\/v2\/pages\/3972\/revisions"}],"predecessor-version":[{"id":3975,"href":"https:\/\/www.esptcongress.org\/index.php\/wp-json\/wp\/v2\/pages\/3972\/revisions\/3975"}],"wp:attachment":[{"href":"https:\/\/www.esptcongress.org\/index.php\/wp-json\/wp\/v2\/media?parent=3972"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}