{"id":11120,"date":"2022-04-01T15:17:11","date_gmt":"2022-04-01T13:17:11","guid":{"rendered":"https:\/\/www.sciencefocus.com\/?p=115962"},"modified":"2022-04-01T15:36:11","modified_gmt":"2022-04-01T13:36:11","slug":"complete-human-genome-sequence-reveals-new-genetic-variants-linked-to-disease","status":"publish","type":"rss_feed","link":"https:\/\/c01.purpledshub.com\/bbcsciencefocus\/rss_feed\/complete-human-genome-sequence-reveals-new-genetic-variants-linked-to-disease\/","title":{"rendered":"Complete human genome sequence reveals new genetic variants linked to disease"},"content":{"rendered":"

<\/p>

By Amy Barrett\n \t\t<\/p>

Published: Friday, 01 April 2022 at 12:00 am<\/p>

\n\n

For the first time, scientists have been able to sequence the complete human genome, revealing never-before-seen regions of DNA<\/a> that code for things like muscular dystrophy, some cancers, and even our big brains.<\/p>\n

When the human genome project completed its sequencing in 2003, it offered an accurate picture of 92 per cent of our genome. The remaining 8 per cent was too complex for the technology of the time to map, and since then researchers have been working to provide a full picture of the DNA blueprint that makes us human.<\/p>\n

The team behind the discovery \u2013 named the Telomere-to-Telomere Consortium (T2T) \u2013 say the newly mapped areas of our genome could lead to innovative treatments and greater understanding of human variation.<\/p>\n

What is the human genome?<\/h2>\n

The human genome is the entirety of a person\u2019s DNA. It includes around 21,000 genes, which, if removed from a single cell and stretched out, would form a strand around 2 metres long<\/a>. These genes are segmented, and are often found grouped in 46 bundles, which are known as chromosomes.<\/p>\n

\"""\"<\/source><\/source><\/source><\/source><\/source><\/source><\/source><\/source><\/source><\/source><\/source><\/source><\/source><\/source><\/picture><\/div>
Diagram of a chromosome, courtesy of National Human Genome Research Institute, genome.gov<\/span><\/figcaption><\/div>\n

\u201cThe genome is the complete book of instructions for a species, and every species has its own genome. It\u2019s basically the blueprint that tells cells how and when to create an individual of that species,\u201d said Dr Karen Miga<\/a>, assistant professor of biomolecular engineering at UC Santa Cruz.<\/p>\n

Along with Dr Adam Phillippy<\/a> of the National Human Genome Research Institute, Miga lead an international team of scientists in the search for the missing sections of the human genome.<\/p>\n

\u201c[When the first genome was sequenced in 2003] we had the book, but there were whole chapters missing. Over the years we\u2019ve added pages here and there, unscrambling some text or correcting some errors. But now, we go from page one to the final page of the book. Having this will help us better understand how we form, as an organism, and how we vary among other humans and other species,\u201d said Miga.<\/p>\n

What was found in our missing DNA?<\/h2>\n

The 8 per cent hidden represented a huge gap in medical and genomic knowledge. \u201cOn a world map, 8 per cent is about the size of Africa, so almost an entire continent was missing,\u201d said Miga.<\/p>\n

Among the new information sequenced were two crucial areas of our chromosomes: the telomeres and the centromeres.<\/p>\n

Telomeres are small caps found at the end of our chromosomes. It is these areas of our chromosomes that shorten as we age. Some research has shown that people who have shorter telomeres than is normal for their age are at increased risk of diseases of old age, and die sooner than people with longer ones. Studies suggest the lengthening of telomeres is one possible way to slow down ageing<\/a>.<\/p>\n

Read more about our DNA:<\/strong><\/p>\n