{"id":16637,"date":"2022-05-12T17:23:30","date_gmt":"2022-05-12T17:23:30","guid":{"rendered":"https:\/\/admin.acceleratingscience.com\/behindthebench\/?p=16637"},"modified":"2022-05-12T20:03:20","modified_gmt":"2022-05-12T20:03:20","slug":"hybrid-snp-microarrays-for-uniparental-disomy-upd","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/","title":{"rendered":"Hybrid-SNP Microarrays for Uniparental Disomy"},"content":{"rendered":"<h2>Genetic Inheritance and Health Risks It Carries<\/h2>\n<p>Prenatal and postnatal genetic testing are increasingly common as researchers seek to learn more about genetic inheritance and health risks they carry.<\/p>\n<h3>Uniparental Disomy (UPD)<\/h3>\n<p>One genetic risk factor that is getting increased attention is <strong>uniparental disomy (UPD)<\/strong>, in which a chromosomal duplication error results in having two copies of one parent\u2019s chromosome and none from the other. Dr. Stuart Schwartz, Associate Vice President and Senior Director of Cytogenetics of the Laboratory Corporation of America at the Center for Molecular Biology and Pathology, explains the significance of UPD, the genetic conditions it can cause, and how hybrid-SNP chromosomal microarrays (CMAs) can help detect it.<\/p>\n<p>UPD typically starts from a more common trisomy, from a duplicated chromosome from one parent. Chromosomal repair mechanisms can mistakenly destroy the corresponding chromosome from the other parent rather than the duplicate, resulting in a fetus that has a normal karyotype but a very high degree of homozygosity in the affected chromosome.<\/p>\n<h4>Copy Number Variation (CNV) Assays and SNPs in Hybrid-SNP Microarrays<\/h4>\n<p>Because of this pattern, Dr. Schwartz explains that conventional chromosomal microarrays can often make little sense of uniparental disomy. Since the overall number of copies of most genes remains normal in this situation, copy number variation (CNV) assays struggle to detect this condition, and it also appears normal on karyotypes. In combination with single-nucleotide polymorphisms (SNPs) in hybrid-SNP microarrays, however, copy number variations can provide the data needed to recognize UPD and detect the associated genetic conditions.<img loading=\"lazy\" decoding=\"async\" class=\"aligncenter wp-image-16639 size-large\" title=\"Cytogenetics\" src=\"http:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes-1024x536.jpg\" alt=\"\" width=\"760\" height=\"398\" srcset=\"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes-1024x536.jpg 1024w, https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes-300x157.jpg 300w, https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes-768x402.jpg 768w, https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg 1200w\" sizes=\"auto, (max-width: 760px) 100vw, 760px\" \/><\/p>\n<h4>Solving Complex UPD Genetic Situations<\/h4>\n<p>Emphasis on the quality of the data produced may help solve particularly complex genetic situations, such as multiple simultaneous UPD events in different chromosomes or UPD combined with a homozygous deletion somewhere on the affected chromosome. <a title=\"Transient neonatal diabetes mellitus - About the Disease - Genetic and Rare Diseases Information Center\" href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/1839\/transient-neonatal-diabetes-mellitus\" target=\"_blank\" rel=\"noopener\">With UPD implicated in as many as 40% of all cases of transient neonatal diabetes mellitus<\/a>, it is more important than ever to bring this sea change in microarray technology into more research laboratories.<\/p>\n<p>UPD poses a particular danger when it affects genes subject to chromosomal imprinting, in which only the maternal or paternal copy of a chromosome is expressed in some or all cells. When UPD occurs in these chromosomes, which include 6, 7, 11, 14, 15, and 20, that imprinting process must contend with either a double dose of those genes or their absence, resulting in some characteristic health conditions.<\/p>\n<p>In some cases, UPD in a given chromosome can cause either of two separate pathologies depending on whether the duplicated copy is of maternal or paternal origin. \u00a0Dr Schwartz highlights that UPD in chromosome 15 causes <a title=\"Prader-Willi syndrome - Symptoms and causes - Mayo Clinic\" href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/prader-willi-syndrome\/symptoms-causes\/syc-20355997\" target=\"_blank\" rel=\"noopener\">Prader-Willi syndrome<\/a> when the affected chromosome is maternal and <a title=\"Angelman syndrome symptoms and causes - Mayo Clinic\" href=\"https:\/\/www.mayoclinic.org\/diseases-conditions\/angelman-syndrome\/symptoms-causes\/syc-20355621\" target=\"_blank\" rel=\"noopener\">Angelman syndrome<\/a> when it is paternal. Uniparental disomy has other effects too; for example, UPD can both look like and have the same health effects as consanguinity, making it important to be able to distinguish the two situations.<\/p>\n<p>As Dr. Schwartz puts it, <strong>&#8220;It\u2019s hard to imagine coming from looking at chromosomes and now being able to see all these underlying changes that we never quite knew went on\u2026 now we\u2019re getting insight into some of the mechanisms that we never could have imagined that went on with human chromosomes.<\/strong>&#8221;<\/p>\n<p><a title=\"Case examples highlight the unique position that CMA holds in prenatal and postnatal testing\" href=\"https:\/\/www.thermofisher.com\/ca\/en\/home\/global\/forms\/life-science\/case-study-snp-microarrays-upd.html\" target=\"_blank\" rel=\"noopener\">Case Study Video Series \u2013 <strong>Watch Dr. Schwartz\u2019s webinar<\/strong><\/a> and learn more on the detection of UPD with CMA. Other videos include case examples that highlight the unique position CMA and hybrid-SNP arrays hold in prenatal and postnatal testing, providing resolution to otherwise unsolved clinical research questions.<\/p>\n<h2>Related Resources<\/h2>\n<p><a title=\"Comprehensive portfolio of reproductive health solutions to help you achieve your research goals and positively impact families around the world.\" href=\"https:\/\/www.thermofisher.com\/us\/en\/home\/clinical\/clinical-genomics\/reproductive-health-solutions.html\" target=\"_blank\" rel=\"noopener\">\u00bb Reproductive Health Solutions<\/a> \u2013 From carrier screening to preimplantation genetic testing and prenatal and postnatal applications, our comprehensive portfolio of reproductive health solutions can help you achieve your goals and positively impact families around the world.<\/p>\n<p><a title=\"One resource for all your microarray analysis support needs.\" href=\"https:\/\/www.thermofisher.com\/us\/en\/home\/technical-resources\/technical-reference-library\/microarray-analysis-support-center.html\" target=\"_blank\" rel=\"noopener\">\u00bb Microarray Analysis Support Center<\/a> \u2013 \u00a0One resource for all your microarray analysis support needs.<\/p>\n<p><a title=\"Why GeneDx Chose CytoScan Chromosomal Microarrays\" href=\"https:\/\/www.thermofisher.com\/blog\/behindthebench\/choose-the-right-cma-cytoscan-chromosomal-microarrays\" target=\"_blank\" rel=\"noopener\">\u00bb Choose the Right Chromosomal Microarray<\/a> \u2013 Are all microarrays equal? Scientists share their journey \u2013 learn why GeneDx chose CytoScan chromosomal microarrays.<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Genetic Inheritance and Health Risks It Carries Prenatal and postnatal genetic testing are increasingly common as researchers seek to learn more about genetic inheritance and health risks they carry. Uniparental Disomy (UPD) One genetic risk factor that is getting increased attention is uniparental disomy (UPD), in which a chromosomal duplication error results in having two<\/p>\n","protected":false},"author":120,"featured_media":16639,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_kad_blocks_custom_css":"","_kad_blocks_head_custom_js":"","_kad_blocks_body_custom_js":"","_kad_blocks_footer_custom_js":"","_monsterinsights_skip_tracking":false,"_genesis_hide_title":false,"_genesis_hide_breadcrumbs":false,"_genesis_hide_singular_image":false,"_genesis_hide_footer_widgets":false,"_genesis_custom_body_class":"","_genesis_custom_post_class":"","_genesis_layout":"","_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":""},"categories":[172,182],"tags":[2277,259,29],"division":[],"class_list":{"0":"post-16637","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-general","8":"category-reproductive-genomics","9":"tag-microarray","10":"tag-reproductive-health","11":"tag-snp","12":"entry"},"_selected_authors":"","_selected_reviewers":"","acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.8 (Yoast SEO v27.8) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>UPD Detection With Hybrid-SNP Chromosomal Microarrays (SMAs)<\/title>\n<meta name=\"description\" content=\"An advantage of hybrid-SNP microarrays combined with copy number variations is the detection of uniparental disomy (UPD) and other complex genetic conditions.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Hybrid-SNP Microarrays for Uniparental Disomy\" \/>\n<meta property=\"og:description\" content=\"An advantage of hybrid-SNP microarrays combined with copy number variations is the detection of uniparental disomy (UPD) and other complex genetic conditions.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/\" \/>\n<meta property=\"og:site_name\" content=\"Behind the Bench\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/thermofisher\" \/>\n<meta property=\"article:published_time\" content=\"2022-05-12T17:23:30+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-05-12T20:03:20+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1200\" \/>\n\t<meta property=\"og:image:height\" content=\"628\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Behind The Bench Staff\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@thermofisher\" \/>\n<meta name=\"twitter:site\" content=\"@thermofisher\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Behind The Bench Staff\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"4 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/\"},\"author\":{\"name\":\"Behind The Bench Staff\",\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/#\\\/schema\\\/person\\\/9bbb2d67616274d3d4a21a584f7f4a0c\"},\"headline\":\"Hybrid-SNP Microarrays for Uniparental Disomy\",\"datePublished\":\"2022-05-12T17:23:30+00:00\",\"dateModified\":\"2022-05-12T20:03:20+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/\"},\"wordCount\":646,\"commentCount\":1,\"image\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/wp-content\\\/uploads\\\/sites\\\/9\\\/2022\\\/05\\\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg\",\"keywords\":[\"microarray\",\"reproductive health\",\"SNP\"],\"articleSection\":[\"General\",\"Reproductive Genomics\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/\",\"url\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/\",\"name\":\"UPD Detection With Hybrid-SNP Chromosomal Microarrays (SMAs)\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/#primaryimage\"},\"image\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/wp-content\\\/uploads\\\/sites\\\/9\\\/2022\\\/05\\\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg\",\"datePublished\":\"2022-05-12T17:23:30+00:00\",\"dateModified\":\"2022-05-12T20:03:20+00:00\",\"author\":{\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/#\\\/schema\\\/person\\\/9bbb2d67616274d3d4a21a584f7f4a0c\"},\"description\":\"An advantage of hybrid-SNP microarrays combined with copy number variations is the detection of uniparental disomy (UPD) and other complex genetic conditions.\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/#primaryimage\",\"url\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/wp-content\\\/uploads\\\/sites\\\/9\\\/2022\\\/05\\\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg\",\"contentUrl\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/wp-content\\\/uploads\\\/sites\\\/9\\\/2022\\\/05\\\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg\",\"width\":1200,\"height\":628},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/www.thermofisher.com\\\/blog\\\/behindthebench\\\/hybrid-snp-microarrays-for-uniparental-disomy-upd\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Hybrid-SNP Microarrays for Uniparental Disomy\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/#website\",\"url\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/\",\"name\":\"Behind the Bench\",\"description\":\"\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/behindthebench\\\/#\\\/schema\\\/person\\\/9bbb2d67616274d3d4a21a584f7f4a0c\",\"name\":\"Behind The Bench Staff\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/52d5c16ece4bd1c0a49a63521c2b6a25c54a3f0c33f7afed215ba7e0cdff69e3?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/52d5c16ece4bd1c0a49a63521c2b6a25c54a3f0c33f7afed215ba7e0cdff69e3?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/52d5c16ece4bd1c0a49a63521c2b6a25c54a3f0c33f7afed215ba7e0cdff69e3?s=96&d=mm&r=g\",\"caption\":\"Behind The Bench Staff\"},\"url\":\"https:\\\/\\\/admin.acceleratingscience.com\\\/author\\\/behind-the-bench-staff\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO Premium plugin. -->","yoast_head_json":{"title":"UPD Detection With Hybrid-SNP Chromosomal Microarrays (SMAs)","description":"An advantage of hybrid-SNP microarrays combined with copy number variations is the detection of uniparental disomy (UPD) and other complex genetic conditions.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/","og_locale":"en_US","og_type":"article","og_title":"Hybrid-SNP Microarrays for Uniparental Disomy","og_description":"An advantage of hybrid-SNP microarrays combined with copy number variations is the detection of uniparental disomy (UPD) and other complex genetic conditions.","og_url":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/","og_site_name":"Behind the Bench","article_publisher":"https:\/\/www.facebook.com\/thermofisher","article_published_time":"2022-05-12T17:23:30+00:00","article_modified_time":"2022-05-12T20:03:20+00:00","og_image":[{"width":1200,"height":628,"url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg","type":"image\/jpeg"}],"author":"Behind The Bench Staff","twitter_card":"summary_large_image","twitter_creator":"@thermofisher","twitter_site":"@thermofisher","twitter_misc":{"Written by":"Behind The Bench Staff","Est. reading time":"4 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/#article","isPartOf":{"@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/"},"author":{"name":"Behind The Bench Staff","@id":"https:\/\/admin.acceleratingscience.com\/behindthebench\/#\/schema\/person\/9bbb2d67616274d3d4a21a584f7f4a0c"},"headline":"Hybrid-SNP Microarrays for Uniparental Disomy","datePublished":"2022-05-12T17:23:30+00:00","dateModified":"2022-05-12T20:03:20+00:00","mainEntityOfPage":{"@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/"},"wordCount":646,"commentCount":1,"image":{"@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/#primaryimage"},"thumbnailUrl":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg","keywords":["microarray","reproductive health","SNP"],"articleSection":["General","Reproductive Genomics"],"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/","url":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/","name":"UPD Detection With Hybrid-SNP Chromosomal Microarrays (SMAs)","isPartOf":{"@id":"https:\/\/admin.acceleratingscience.com\/behindthebench\/#website"},"primaryImageOfPage":{"@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/#primaryimage"},"image":{"@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/#primaryimage"},"thumbnailUrl":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg","datePublished":"2022-05-12T17:23:30+00:00","dateModified":"2022-05-12T20:03:20+00:00","author":{"@id":"https:\/\/admin.acceleratingscience.com\/behindthebench\/#\/schema\/person\/9bbb2d67616274d3d4a21a584f7f4a0c"},"description":"An advantage of hybrid-SNP microarrays combined with copy number variations is the detection of uniparental disomy (UPD) and other complex genetic conditions.","breadcrumb":{"@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/"]}]},{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/#primaryimage","url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg","contentUrl":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg","width":1200,"height":628},{"@type":"BreadcrumbList","@id":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/hybrid-snp-microarrays-for-uniparental-disomy-upd\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/admin.acceleratingscience.com\/behindthebench\/"},{"@type":"ListItem","position":2,"name":"Hybrid-SNP Microarrays for Uniparental Disomy"}]},{"@type":"WebSite","@id":"https:\/\/admin.acceleratingscience.com\/behindthebench\/#website","url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/","name":"Behind the Bench","description":"","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/admin.acceleratingscience.com\/behindthebench\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Person","@id":"https:\/\/admin.acceleratingscience.com\/behindthebench\/#\/schema\/person\/9bbb2d67616274d3d4a21a584f7f4a0c","name":"Behind The Bench Staff","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/52d5c16ece4bd1c0a49a63521c2b6a25c54a3f0c33f7afed215ba7e0cdff69e3?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/52d5c16ece4bd1c0a49a63521c2b6a25c54a3f0c33f7afed215ba7e0cdff69e3?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/52d5c16ece4bd1c0a49a63521c2b6a25c54a3f0c33f7afed215ba7e0cdff69e3?s=96&d=mm&r=g","caption":"Behind The Bench Staff"},"url":"https:\/\/admin.acceleratingscience.com\/author\/behind-the-bench-staff\/"}]}},"taxonomy_info":{"category":[{"value":172,"label":"General"},{"value":182,"label":"Reproductive Genomics"}],"post_tag":[{"value":2277,"label":"microarray"},{"value":259,"label":"reproductive health"},{"value":29,"label":"SNP"}]},"featured_image_src_large":["https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes-1024x536.jpg",760,398,true],"author_info":{"display_name":"Behind The Bench Staff","author_link":"https:\/\/admin.acceleratingscience.com\/author\/behind-the-bench-staff\/"},"comment_info":2,"category_info":[{"term_id":172,"name":"General","slug":"general","term_group":0,"term_taxonomy_id":172,"taxonomy":"category","description":"","parent":0,"count":160,"filter":"raw","meta":[],"cat_ID":172,"category_count":160,"category_description":"","cat_name":"General","category_nicename":"general","category_parent":0},{"term_id":182,"name":"Reproductive Genomics","slug":"reproductive-genomics","term_group":0,"term_taxonomy_id":182,"taxonomy":"category","description":"","parent":0,"count":23,"filter":"raw","meta":[],"cat_ID":182,"category_count":23,"category_description":"","cat_name":"Reproductive Genomics","category_nicename":"reproductive-genomics","category_parent":0}],"tag_info":[{"term_id":2277,"name":"microarray","slug":"microarray","term_group":0,"term_taxonomy_id":2277,"taxonomy":"post_tag","description":"","parent":0,"count":5,"filter":"raw","meta":[]},{"term_id":259,"name":"reproductive health","slug":"reproductive-health","term_group":0,"term_taxonomy_id":259,"taxonomy":"post_tag","description":"","parent":0,"count":4,"filter":"raw","meta":[]},{"term_id":29,"name":"SNP","slug":"snp","term_group":0,"term_taxonomy_id":29,"taxonomy":"post_tag","description":"","parent":0,"count":1,"filter":"raw","meta":[]}],"jetpack-related-posts":[{"id":19640,"url":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/direct-from-lysate-snp-genotyping-in-research-applications\/","url_meta":{"origin":16637,"position":0},"title":"Direct-from-Lysate SNP Genotyping in Research Applications","author":"Ashleigh Barlow","date":"April 6, 2026","format":false,"excerpt":"Direct-from-lysate workflow enabled by DNA Extract All Reagents compared to traditional DNA purification for SNP genotyping applications. Can You Perform SNP Genotyping Without DNA Purification? The short answer: In many research workflows, direct-from-lysate SNP genotyping can be performed without traditional DNA purification\u2014when appropriate chemistries and verification procedures are used. Direct-from-lysate\u2026","rel":"","context":"In &quot;General&quot;","block_context":{"text":"General","link":"https:\/\/admin.acceleratingscience.com\/behindthebench\/general\/"},"img":{"alt_text":"Comparison of traditional DNA purification workflow and direct-from-lysate workflow using DNA Extract All Reagents for SNP genotyping prior to qPCR.","src":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/04\/blog-image-1.png?resize=350%2C200&ssl=1","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/04\/blog-image-1.png?resize=350%2C200&ssl=1 1x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/04\/blog-image-1.png?resize=525%2C300&ssl=1 1.5x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/04\/blog-image-1.png?resize=700%2C400&ssl=1 2x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/04\/blog-image-1.png?resize=1050%2C600&ssl=1 3x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/04\/blog-image-1.png?resize=1400%2C800&ssl=1 4x"},"classes":[]},{"id":19447,"url":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/philadelphia-chromosome-like-all-digital-pcr\/","url_meta":{"origin":16637,"position":1},"title":"Unlocking Cancer\u2019s Genetic Secrets with Digital PCR","author":"Behind The Bench Staff","date":"February 27, 2026","format":false,"excerpt":"In this episode of Absolute Gene-ius, we explore how digital PCR (dPCR) is transforming leukemia research with Valeria Rangel, a PhD candidate at the University of California, Irvine. Her work focuses on Philadelphia chromosome-like (Ph-like) B-cell acute lymphoblastic leukemia (ALL), a rare, aggressive subtype that disproportionately affects Hispanic populations. By\u2026","rel":"","context":"In &quot;Cancer Research&quot;","block_context":{"text":"Cancer Research","link":"https:\/\/admin.acceleratingscience.com\/behindthebench\/cancer-research\/"},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/RANGEL-headshot-1.jpg?resize=350%2C200&ssl=1","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/RANGEL-headshot-1.jpg?resize=350%2C200&ssl=1 1x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/RANGEL-headshot-1.jpg?resize=525%2C300&ssl=1 1.5x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/RANGEL-headshot-1.jpg?resize=700%2C400&ssl=1 2x"},"classes":[]},{"id":19976,"url":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/taqman-assay-design-genomic-data\/","url_meta":{"origin":16637,"position":2},"title":"What does it take to keep 20 million Applied Biosystems TaqMan Assays current?","author":"Ashleigh Barlow","date":"September 30, 2026","format":false,"excerpt":"How do you keep more than 20 million TaqMan assays current as genomic knowledge evolves? Every year, our understanding of biology becomes more complete. New variants are discovered, transcript annotations improve, gene models evolve, and our assay-design algorithms advance. That does not mean an assay designed years ago is suddenly\u2026","rel":"","context":"In &quot;Bioinformatics&quot;","block_context":{"text":"Bioinformatics","link":"https:\/\/admin.acceleratingscience.com\/behindthebench\/bioinformatics\/"},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/BAN-16090146_1528x860.jpg?resize=350%2C200&ssl=1","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/BAN-16090146_1528x860.jpg?resize=350%2C200&ssl=1 1x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/BAN-16090146_1528x860.jpg?resize=525%2C300&ssl=1 1.5x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/BAN-16090146_1528x860.jpg?resize=700%2C400&ssl=1 2x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/BAN-16090146_1528x860.jpg?resize=1050%2C600&ssl=1 3x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/BAN-16090146_1528x860.jpg?resize=1400%2C800&ssl=1 4x"},"classes":[]},{"id":19235,"url":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/crispr-digital-pcr-gene-editing-workflow\/","url_meta":{"origin":16637,"position":3},"title":"Revolutionizing Gene Editing with CRISPR and Digital PCR &#8211; A Conversation with Dr. Dustin Rubinstein","author":"Behind The Bench Staff","date":"November 11, 2025","format":false,"excerpt":"In a recent Absolute Gene-ius podcast episode titled \u201cCRISPR, dPCR, and pigs - a cut above the rest\u201d, Dr. Dustin Rubinstein, Director of the Advanced Genome Editing Laboratory at the University of Wisconsin-Madison, shared his insights on how CRISPR and digital PCR (dPCR) are revolutionizing gene editing workflows. This Q&A\u2026","rel":"","context":"In &quot;Cancer Research&quot;","block_context":{"text":"Cancer Research","link":"https:\/\/admin.acceleratingscience.com\/behindthebench\/cancer-research\/"},"img":{"alt_text":"","src":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/S3-E1-Header-Image-1_Jordan-Ruggieri-scaled.png?resize=350%2C200&ssl=1","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/S3-E1-Header-Image-1_Jordan-Ruggieri-scaled.png?resize=350%2C200&ssl=1 1x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/S3-E1-Header-Image-1_Jordan-Ruggieri-scaled.png?resize=525%2C300&ssl=1 1.5x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/S3-E1-Header-Image-1_Jordan-Ruggieri-scaled.png?resize=700%2C400&ssl=1 2x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/S3-E1-Header-Image-1_Jordan-Ruggieri-scaled.png?resize=1050%2C600&ssl=1 3x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2025\/11\/S3-E1-Header-Image-1_Jordan-Ruggieri-scaled.png?resize=1400%2C800&ssl=1 4x"},"classes":[]},{"id":19997,"url":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/ai-laboratory-automation-qpcr\/","url_meta":{"origin":16637,"position":4},"title":"AI and Laboratory Automation: The experimental context behind qPCR data","author":"Behind The Bench Staff","date":"September 11, 2026","format":false,"excerpt":"AI is changing how researchers analyze biological data, while automation is changing how that data is performed at scale. As more of the research process becomes automated and data-driven, an important question emerges: What should researchers consider about how data is generated before downstream analysis begins? In qPCR, assays, reagents,\u2026","rel":"","context":"In &quot;Lab Tips and Tricks&quot;","block_context":{"text":"Lab Tips and Tricks","link":"https:\/\/admin.acceleratingscience.com\/behindthebench\/lab-tips-and-tricks\/"},"img":{"alt_text":"qPCR reaction tube with amplification curves representing experimental data used in AI and laboratory automation.","src":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/qPCR_GEN_Blog_AI_Lab_Automation_Amafel-Calalay.png?resize=350%2C200&ssl=1","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/qPCR_GEN_Blog_AI_Lab_Automation_Amafel-Calalay.png?resize=350%2C200&ssl=1 1x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/qPCR_GEN_Blog_AI_Lab_Automation_Amafel-Calalay.png?resize=525%2C300&ssl=1 1.5x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/qPCR_GEN_Blog_AI_Lab_Automation_Amafel-Calalay.png?resize=700%2C400&ssl=1 2x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/qPCR_GEN_Blog_AI_Lab_Automation_Amafel-Calalay.png?resize=1050%2C600&ssl=1 3x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/09\/qPCR_GEN_Blog_AI_Lab_Automation_Amafel-Calalay.png?resize=1400%2C800&ssl=1 4x"},"classes":[]},{"id":19776,"url":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/epigenetic-methylation-analysis-qpcr-dpcr\/","url_meta":{"origin":16637,"position":5},"title":"Epigenetics unlocked: How behavior shapes biology","author":"Ashleigh Barlow","date":"May 28, 2026","format":false,"excerpt":"Article Summary Epigenetics is helping researchers understand how environment, behavior, and molecular regulation intersect. Rather than changing the underlying DNA sequence, epigenetic changes influence how genes are expressed, including when they are turned on, turned off, or regulated in response to biological and environmental signals. In this episode of Absolute\u2026","rel":"","context":"In &quot;Epigenetics&quot;","block_context":{"text":"Epigenetics","link":"https:\/\/admin.acceleratingscience.com\/behindthebench\/epigenetics\/"},"img":{"alt_text":"Portrait of Dr. Robert Philibert discussing epigenetics, DNA methylation, and behavioral biomarkers.","src":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/05\/Philibert-Photo_Jordan-Ruggieri.jpg?resize=350%2C200&ssl=1","width":350,"height":200,"srcset":"https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/05\/Philibert-Photo_Jordan-Ruggieri.jpg?resize=350%2C200&ssl=1 1x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/05\/Philibert-Photo_Jordan-Ruggieri.jpg?resize=525%2C300&ssl=1 1.5x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/05\/Philibert-Photo_Jordan-Ruggieri.jpg?resize=700%2C400&ssl=1 2x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/05\/Philibert-Photo_Jordan-Ruggieri.jpg?resize=1050%2C600&ssl=1 3x, https:\/\/i0.wp.com\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2026\/05\/Philibert-Photo_Jordan-Ruggieri.jpg?resize=1400%2C800&ssl=1 4x"},"classes":[]}],"jetpack_sharing_enabled":true,"jetpack_featured_media_url":"https:\/\/admin.acceleratingscience.com\/behindthebench\/wp-content\/uploads\/sites\/9\/2022\/05\/conceptual-art-cytogenetics-crossword-puzzle-amidst-dna-and-chromosomes.jpg","_links":{"self":[{"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/posts\/16637","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/users\/120"}],"replies":[{"embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/comments?post=16637"}],"version-history":[{"count":0,"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/posts\/16637\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/media\/16639"}],"wp:attachment":[{"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/media?parent=16637"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/categories?post=16637"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/tags?post=16637"},{"taxonomy":"division","embeddable":true,"href":"https:\/\/www.thermofisher.com\/blog\/behindthebench\/wp-json\/wp\/v2\/division?post=16637"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}