{"id":12473,"date":"2019-05-10T11:54:57","date_gmt":"2019-05-10T15:54:57","guid":{"rendered":"https:\/\/engineering.jhu.edu\/magazine-archive\/?p=12473"},"modified":"2019-05-10T11:54:57","modified_gmt":"2019-05-10T15:54:57","slug":"look-whats-missing","status":"publish","type":"post","link":"https:\/\/engineering.jhu.edu\/magazine-archive\/2019\/05\/look-whats-missing\/","title":{"rendered":"Look What’s Missing!"},"content":{"rendered":"\"DNA\"<\/a>\n

For the past 17 years, most scientists around the globe\u00a0 have been using the nucleic acid sequence (or genome, an assembly of DNA information) drawn primarily from a single individual as a kind of \u201cbaseline\u201d reference and human species representation for comparing genetic variety among groups of people.<\/p>\n

Known as the GRCh38 reference genome, it is periodically updated with DNA sequences from other individuals. But in a new analysis, Johns Hopkins researchers now say that the collective genomes of\u00a0 910 people of African descent have a large chunk\u2014about 300 million bits\u2014of genetic material that is missing from the basic reference genome.<\/p>\n

\u201cThere\u2019s so much more human DNA than we originally thought,\u201d says Steven Salzberg<\/a>, Bloomberg Distinguished Professor of Biomedical Engineering, Computer Science, and Biostatistics.<\/p>\n

Knowing the variations in genomes across populations is essential to research design to reveal why certain people or groups of people may be more or less susceptible to common health conditions, such as heart disease, cancer, and diabetes, and Salzberg says that scientists need to build more reference genomes that more closely reflect different populations.<\/p>\n

\u201cThe whole world is relying on what is essentially a single reference genome, and when a particular DNA analysis doesn\u2019t match the reference and you throw away those nonmatching sequences, those discarded bits may in fact hold the answers and clues you are seeking,\u201d says Salzberg.<\/p>\n

Rachel Sherman, the first author on the report described online Nov. 19 in Nature Genetics<\/em><\/a> and a doctoral candidate in computer science at the Whiting School<\/a>, says, \u201cIf you are a scientist looking for genome variations linked to a condition that is more prevalent in a certain population, you\u2019d want to compare the genomes to a reference genome more representative of that population.\u201d<\/p>\n

Specifically, the world\u2019s reference genome was assembled from the nucleic acid sequences of a handful of anonymous volunteers. Other researchers later determined that 70 percent of the reference genome derives from a single individual who was half European and half African, and the rest derives from multiple individuals of European and Chinese descent, according to Salzberg.<\/p>\n

\u201cThese results underscore the importance of research on populations from diverse backgrounds and ancestries to create a comprehensive and inclusive picture of the human genome,\u201d said James Kiley, director of the Division of Lung Diseases at the National Heart, Lung, and Blood Institute, which supported the study.<\/p>\n

He adds, \u201cA more complete picture of the human genome may lead to a better understanding of variations in disease risk across different populations.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"

Knowing the variations in genomes across populations is essential to research design to reveal why certain people or groups of people may be more or less susceptible to common health conditions, such as heart disease, cancer, and diabetes.<\/p>\n","protected":false},"author":4,"featured_media":12476,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[24],"tags":[119,121,263,290,1842,1942,1950,4311],"class_list":["post-12473","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-impact","tag-department-of-computer-science","tag-department-of-biomedical-engineering","tag-genome","tag-bloomberg-distinguished-professor","tag-steven-salzberg","tag-dna","tag-human-genome","tag-rachel-sherman","issue-spring-2019"],"acf":[],"yoast_head":"\nLook What's Missing! - JHU Engineering Magazine<\/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:\/\/engineering.jhu.edu\/magazine-archive\/2019\/05\/look-whats-missing\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Look What's Missing! 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