Irvine, Calif., April 5, 2024 A research team led by the University of California, Irvine has built the first genetic reference maps for short lengths of DNA repeated multiple times which are known to cause more than 50 lethal human diseases, including amyotrophic lateral sclerosis, Huntingtons disease and multiple cancers.
The UC Irvine Tandem Genome Aggregation Database enables researchers to study how these mutations called tandem repeat expansions are connected to diseases, to better understand health disparities and to improve clinical diagnostics.
The study, published online today in the journal Cell, introduces the UC Irvine TR-gnomAD, which addresses a critical gap in current biobank genome sequencing efforts. Although TR expansions constitute about 6 percent of our genome and substantially contribute to complex congenial conditions, scientific understanding of them remains limited.
This groundbreaking project positions UC Irvine as a leader in human and medical genetics by addressing the critical gap in the ability to interpret TR expansions in individuals with genetic disorders, said Wei Li, the Grace B. Bell Chair and professor of bioinformatics and co-corresponding author. The TR-gnomAD advances our ability to determine how certain diseases might affect diverse groups of people based on variations in these mutations among ancestries. Genetic consulting companies can then develop products to interpret this information and accurately report how certain traits might be linked to different groups of people and diseases.
To build the database, the team utilized two software tools to analyze the genomic data of 338,963 participants across 11 sub-populations. Of the .91 million TRs identified, .86 million were of high enough quality to be retained for further study. It was also discovered that 30.5 percent of them had at least two common alternative forms of a gene caused by a mutation located in the same place on a chromosome.
Although weve successfully genotyped a substantial number of TRs, that is still just a fraction of the total number in the human genome, Li said. Our next steps will be to prioritize the integration of a greater number of high-quality TR and include more underrepresented ancestries, such as Australian, Pacific Islander and Mongolian, as we move closer to realizing personalized precision medicine.
UC Irvine team members involved in the research included co-corresponding author and research assistant professor Ya Cui; Wenbin Ye, postdoctoral scholar; Jason Sheng Li, biological chemistry graduate student; and Eric Vilain, professor of pediatrics and the director of the Institute for Clinical andTranslational Science. Also participating were Jingi Jessica Le, UCLA biostatistics professor, and Dr. Tamer Sallam, vice chair and associate professor at the UCLA David Geffen School of Medicine.
UC Irvines Brilliant Future campaign: Publicly launched on Oct. 4, 2019, the Brilliant Future campaign aims to raise awareness and support for UC Irvine. By engaging 75,000 alumni and garnering $2 billion in philanthropic investment, UC Irvine seeks to reach new heights of excellence instudent success, health and wellness, research and more. The School of Medicine plays a vital role in the success of the campaign. Learn more by visiting https://brilliantfuture.uci.edu/uci-school-of-medicine.
About the University of California, Irvine:Founded in 1965, UC Irvine is a member of the prestigious Association of American Universities and is ranked among the nations top 10 public universities byU.S. News & World Report. The campus has produced five Nobel laureates and is known for its academic achievement, premier research, innovation and anteater mascot. Led by Chancellor Howard Gillman, UC Irvine has more than 36,000 students and offers 224 degree programs. Its located in one of the worlds safest and most economically vibrant communities and is Orange Countys second-largest employer, contributing $7 billion annually to the local economy and $8 billion statewide.For more on UC Irvine, visitwww.uci.edu.
Media access: Radio programs/stations may, for a fee, use an on-campus ISDN line to interview UC Irvine faculty and experts, subject to availability and university approval. For more UC Irvine news, visit news.uci.edu. Additional resources for journalists may be found at https://news.uci.edu/media-resources.
Go here to see the original:
UC Irvine-led research team builds first tandem repeat expansions genetic reference maps - UCI News
- Introgression and disruption of migration routes have shaped the genetic integrity of wildebeest populations - Nature.com - April 15th, 2024 [April 15th, 2024]
- Is Left-Handedness Tied to Your Genetics? Possibly, New Study Suggests - Technology Networks - April 15th, 2024 [April 15th, 2024]
- A pan-genome of 69 Arabidopsis thaliana accessions reveals a conserved genome structure throughout the global ... - Nature.com - April 15th, 2024 [April 15th, 2024]
- Clemson researchers pave the way for precision medicine with AI - Clemson News - April 15th, 2024 [April 15th, 2024]
- ACMG Foundation for Genetic and Genomic Medicine Elects Four Highly Accomplished Medical Genetics ... - PR Newswire - April 15th, 2024 [April 15th, 2024]
- Katie Gallagher MS '15, CGC Named Director of the Joan H. Marks Graduate Program in Human Genetics at Sarah ... - Sarah Lawrence College - April 15th, 2024 [April 15th, 2024]
- The genomic architecture of inherited DNA variants - Baylor College of Medicine | BCM - April 15th, 2024 [April 15th, 2024]
- Clemson genetics major named Truman Scholar for her work in combatting rare diseases - ABC NEWS 4 - April 15th, 2024 [April 15th, 2024]
- Otago University Discovers Cause of Rare Genetic Condition - Mirage News - April 15th, 2024 [April 15th, 2024]
- Genetic Analysis Guides Conservation of Endangered Bumble Bee - Entomology Today - April 15th, 2024 [April 15th, 2024]
- First insights into the genetic bottleneck characterizing early sheep husbandry in the Neolithic period - EurekAlert - April 15th, 2024 [April 15th, 2024]
- Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease - Nature.com - April 7th, 2024 [April 7th, 2024]
- A deep dive into the genetics of alcohol consumption - Medical Xpress - April 7th, 2024 [April 7th, 2024]
- Right-wing authoritarianism appears to have a genetic foundation - PsyPost - April 7th, 2024 [April 7th, 2024]
- A Deep Dive Into the Genetics of Alcohol Consumption - University of California San Diego - April 7th, 2024 [April 7th, 2024]
- Untold story of bird evolution revealed through genetics - Earth.com - April 7th, 2024 [April 7th, 2024]
- Genetic Test for Opioid Addiction Risk Should Be Withdrawn, Experts Tell FDA - Medpage Today - April 7th, 2024 [April 7th, 2024]
- Scientists Discover 17 New Genetic Variants Linked to Alzheimer's Disease - SciTechDaily - April 7th, 2024 [April 7th, 2024]
- An hereditary liver disease cured with the help of gene scissors - EurekAlert - April 7th, 2024 [April 7th, 2024]
- World Anthropology Day showcases multifaceted programs | Binghamton News - Binghamton University - April 7th, 2024 [April 7th, 2024]
- Resilience to periodic disturbances and the long-term genetic stability in Acropora coral | Communications Biology - Nature.com - April 7th, 2024 [April 7th, 2024]
- Rare genetic variants found to have a large impact on obesity risk - Drug Target Review - April 7th, 2024 [April 7th, 2024]
- INTERACT COALITION FORMED TO ADVANCE PATIENT ACCESS TO GENETIC TESTING FOR HEREDITARY ... - PR Newswire - April 7th, 2024 [April 7th, 2024]
- Christensen Genetics - AG INFORMATION NETWORK OF THE WEST - AGInfo Ag Information Network - April 7th, 2024 [April 7th, 2024]
- New form of EDS identified by mutation in THBS2 gene - Ehlers-Danlos News - April 7th, 2024 [April 7th, 2024]
- Genetics of estrogen production linked to endometrial cancer risk in postmenopausal women - News-Medical.Net - February 13th, 2024 [February 13th, 2024]
- Cord Blood Registry (CBR) by CooperSurgical and Fulgent Genetics Launch Innovative Genetic Testing - PR Newswire - February 13th, 2024 [February 13th, 2024]
- Gene Variant Linked to Lower Levels of Hormonal Birth Control - The Scientist - February 13th, 2024 [February 13th, 2024]
- CooperSurgical, Fulgent partner on genetic screening panels - Medical Device Network - February 13th, 2024 [February 13th, 2024]
- UM Today | Faculty of Science | The intersection of genetics and advocacy - UM Today - February 13th, 2024 [February 13th, 2024]
- Genome-wide association study identifies human genetic variants associated with fatal outcome from Lassa fever - Nature.com - February 13th, 2024 [February 13th, 2024]
- Secrets of human genetics could optimize medical care - Earth.com - February 13th, 2024 [February 13th, 2024]
- Significance of genetic mutations in toxic tort cases - Rhode Island Lawyers Weekly - February 13th, 2024 [February 13th, 2024]
- Why Should Farmers Invest in New Genetics? A Recent Panel Discussion Offered Some Good Reasons - Seed World - February 13th, 2024 [February 13th, 2024]
- The Role of Genetics and Maternal Factors in Retinopathy of Prematurity: A Comparative Study - Medriva - February 13th, 2024 [February 13th, 2024]
- 'The Idea That Who You Are Is Only Genetics Is the Essence of Evil' - Books - Haaretz - February 13th, 2024 [February 13th, 2024]
- IPK researchers provide genetic explanations for shade-induced biomass allocation in wheat - EurekAlert - February 13th, 2024 [February 13th, 2024]
- River Valley Beef Cattle Conference to explore state of hay availability, cattle genetics and more - Stuttgart Daily Leader - February 13th, 2024 [February 13th, 2024]
- Harnessing human evolution to advance precision medicine - EurekAlert - February 13th, 2024 [February 13th, 2024]
- Twins are a mirror to each other and a window into the mysteries of genetics - WAMU 88.5 - February 13th, 2024 [February 13th, 2024]
- Unveiling the Disparity in Cardiovascular Health: Biological Factors, Dyslipidemia, and Genetics - Medriva - February 13th, 2024 [February 13th, 2024]
- Parental traits offer new clues to predicting neurodevelopmental disorders in children - News-Medical.Net - February 13th, 2024 [February 13th, 2024]
- Cheetahs Are Extremely Inbred: 50 Interesting Genetics Facts You May Have Missed At School - Bored Panda - February 4th, 2024 [February 4th, 2024]
- Five Best: Books on Genetics - WSJ - The Wall Street Journal - February 4th, 2024 [February 4th, 2024]
- 4 new US sites added to global Parkinson's genetics study - Parkinson's News Today - February 4th, 2024 [February 4th, 2024]
- Animal Genetics Market revenue to exceed USD 43.4 Billion by 2036, says Research Nester - Yahoo Finance - February 4th, 2024 [February 4th, 2024]
- Nobel Laureate and World-Renowned Geneticist to Speak at 2024 Commencement - News Center - Feinberg News Center - February 4th, 2024 [February 4th, 2024]
- Efforts are underway to improve genetics in cattle herds to better sustainability - RFD-TV - February 4th, 2024 [February 4th, 2024]
- First report on the molecular phylogenetics and population genetics of Aedes aegypti in Iran - Parasites & Vectors - Parasites & Vectors - February 4th, 2024 [February 4th, 2024]
- What can your DNA say about your risk of opioid addiction? - National Geographic - February 4th, 2024 [February 4th, 2024]
- The Born in Guangzhou Cohort Study enables generational genetic discoveries - Nature.com - February 4th, 2024 [February 4th, 2024]
- Invitae Partners with BridgeBio Pharma to Harness Genetic Insights for the Discovery of Rare Disease Therapeutics - PR Newswire - February 4th, 2024 [February 4th, 2024]
- Rare disorder causing extra fingers and toes identified - EurekAlert - February 4th, 2024 [February 4th, 2024]
- Retinal OCT and Genetics Identify Links Between Ocular and Systemic Health - Photonics.com - February 4th, 2024 [February 4th, 2024]
- Researchers discover mechanism that protects tissue after faulty gene expression - News-Medical.Net - February 4th, 2024 [February 4th, 2024]
- Genetics or lifestyle: What makes the greatest difference in health? - Agweek - February 4th, 2024 [February 4th, 2024]
- Why Some Folks Get COVID, and Others Never Do - HealthDay - February 4th, 2024 [February 4th, 2024]
- From plant genetics to fresh produce to be showcased in Berlin - FreshPlaza.com - February 4th, 2024 [February 4th, 2024]
- Adolescent Stress Alters Brain Genes, Affecting Adult Behavior - Neuroscience News - February 4th, 2024 [February 4th, 2024]
- Significance of genetic mutations in toxic tort cases - Massachusetts Lawyers Weekly - February 4th, 2024 [February 4th, 2024]
- New genetic test in England aims to make blood transfusions safer - Sickle Cell Disease News - February 4th, 2024 [February 4th, 2024]
- Unlocking tree genetic diversity: advanced hyperspectral phenotyping for enhanced Scots pine selection - EurekAlert - January 19th, 2024 [January 19th, 2024]
- The Role of Genetics in Cancer Care Continues to Expand - OncLive - January 19th, 2024 [January 19th, 2024]
- Family faces multiple diagnoses for genetic condition NF1 - Sanford Health News - January 19th, 2024 [January 19th, 2024]
- Unique gene variants tied to glaucoma found in Black patients - Livescience.com - January 19th, 2024 [January 19th, 2024]
- Myriad Genetics to Acquire Precise Tumor, Precise Liquid and Laboratory from Intermountain Precision Genomics - GlobeNewswire - January 19th, 2024 [January 19th, 2024]
- Reflections on the Idea of Social and Behavioral Genetics - The Hastings Center - January 19th, 2024 [January 19th, 2024]
- Building trust and saving lives: A community approach to genetic education - Medical University of South Carolina - January 19th, 2024 [January 19th, 2024]
- SOPHiA GENETICS and Karkinos Healthcare Forge Strategic Partnership to Advance Cancer Research in India India ... - PR Newswire - January 19th, 2024 [January 19th, 2024]
- 2024 Brevant Brand Corn Class Offers New Genetics and Traits - CropLife - January 19th, 2024 [January 19th, 2024]
- Genetics Reveal Poor Oral Health in Mesolithic Era - Mirage News - January 19th, 2024 [January 19th, 2024]
- Nova Siri Genetics strengthens its presence in Huelva, growing by 34% - FreshPlaza.com - January 19th, 2024 [January 19th, 2024]
- Controversial New Research Find That Bisexuals Are a Bunch of Rascals - Futurism - January 8th, 2024 [January 8th, 2024]
- Mayo Clinic Q&A: Weight loss and genetics - Chicago Tribune - January 8th, 2024 [January 8th, 2024]
- Nutrigene Launches Personalised Development Program to Intersect Genetics and Learning through DNA - JCN Newswire - January 8th, 2024 [January 8th, 2024]
- The DNA of privacy and the privacy of DNA - Federal Trade Commission News - January 8th, 2024 [January 8th, 2024]
- Development of a human genetics-guided priority score for 19365 genes and 399 drug indications - Nature.com - January 8th, 2024 [January 8th, 2024]
- Myriad Genetics, Inc.'s (NASDAQ:MYGN) Intrinsic Value Is Potentially 221% Above Its Share Price - Yahoo Finance - January 8th, 2024 [January 8th, 2024]
- Educational attainment of East Asians are linked to genetics - KBR - January 8th, 2024 [January 8th, 2024]
- MESuSiE enables scalable and powerful multi-ancestry fine-mapping of causal variants in genome-wide association ... - Nature.com - January 8th, 2024 [January 8th, 2024]