PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

Texas Children’s researchers create groundbreaking tool to improve accuracy of genetic testing

2025-10-06
(Press-News.org) HOUSTON (Oct. 6, 2025) – Researchers at Texas Children’s Neurological Research Institute (NRI) and Baylor College of Medicine have developed a powerful new tool within the Genome Aggregation Database (gnomAD) to sharpen the accuracy of genetic testing – a breakthrough with direct implications for patient diagnoses and care worldwide.

The work, published in Nature Communications, applies a method called local ancestry inference (LAI), which breaks the genome into ancestry-specific segments to provide more accurate insights into genetic differences.

“This research updates our genomic resources to better reflect the full spectrum of genetic variation,” said Dr. Elizabeth Atkinson, Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine and principal investigator at the NRI at Texas Children’s. “By refining allele frequency estimates for admixed populations, we can improve the accuracy of genetic diagnoses and reduce the risk of misclassification — ultimately benefitting patients across all backgrounds.”

The study called Improved Allele Frequencies in gnomAD through Local Ancestry Inference, represents a major step forward in the field of genetic testing and personalized medicine. Dr. Atkinson is the senior author of the study, and Pragati Kore and Michael Wilson are co-first authors.

Genetic testing is a powerful tool for diagnosing disease. If genetic variants are common in the general population, they are more likely to be benign. However, estimates for most population frequencies are based on averages across large groups. For people whose genetic background reflects ancestry from multiple continents, such as those classified as African/African American or Latino/Admixed American in gnomAD, this aggregate approach can mask important differences between their ancestral components.

Dr. Atkinson’s team applied local ancestry inference (LAI) to address this problem. Instead of looking at the genome as a whole, LAI breaks it down into segments tracing back to different continental ancestries (for example, African, European, or Indigenous American). The team then calculated how common each variant is within each ancestry segment. This revealed that many variants thought to be rare in global data are actually common in certain ancestry backgrounds.

“These differences are not just academic,” said Dr. Atkinson. “They have clinical consequences.”

Researchers found that in the African/African American and Latino/Admixed American groups, more than 80% of genetic sites had a higher frequency in at least one ancestry-specific tract than previously reported. In some cases, this pushes the variant above a key clinical threshold used by the American College of Medical Genetics and Genomics (ACMG) to classify a variant as benign. This could lead to a more accurate reclassification of variants that might otherwise be misinterpreted.

The new ancestry-specific data is now publicly available through gnomAD, providing researchers, clinicians and genetic testing laboratories all over the world with a more precise tool for interpreting genetic variation.

“Ancestry is a complex, and putting a single label on patients is not the most accurate way to diagnose them,” said Dr. Atkinson. “With this research, we are moving toward a more nuanced consideration of ancestry.”

About Texas Children’s

Texas Children's, a nonprofit health care organization, is committed to creating a healthier future for children and women throughout the global community by leading in patient care, education and research. Consistently ranked as the best children's hospital in Texas and among the top in the nation, Texas Children's has garnered widespread recognition for its expertise and breakthroughs in pediatric and women's health. The system includes the Texas Children's Duncan NRI; the Feigin Tower for pediatric research; Texas Children's Pavilion for Women, a comprehensive obstetrics/gynecology facility focusing on high-risk births; Texas Children's Hospital West Campus, a community hospital in suburban West Houston; Texas Children's Hospital The Woodlands, the first hospital devoted to children's care for communities north of Houston and Texas Children's Hospital North Austin, the new state-of-the-art facility providing world-class pediatric and maternal care to Austin families. The organization also created Texas Children's Health Plan, the nation's first HMO focused on children; Texas Children's Pediatrics, the largest pediatric primary care network in the country; Texas Children's Urgent Care clinics that specialize in after-hours care tailored specifically for children; and a global health program that is channeling care to children and women all over the world. Texas Children's Hospital is affiliated with Baylor College of Medicine. For more information, visit www.texaschildrens.org. 

END


ELSE PRESS RELEASES FROM THIS DATE:

Milken Institute, Ann Theodore Foundation announce more than $2.5 million in new funding for sarcoidosis research and launch new call for proposals

2025-10-06
October 6, 2025 (Washington, DC)—The Milken Institute Science Philanthropy Accelerator for Research and Collaboration (SPARC), in partnership with the Ann Theodore Foundation (ATF), today announced that the Ann Theodore Foundation Breakthrough Sarcoidosis Initiative (ATF-BSI) has awarded five grants totaling more than $2.5 million to interdisciplinary research teams. Concurrently, the two partners have launched ATF-BSI’s fifth round of philanthropic funding via a new request for proposals (RFP) related to sarcoidosis ...

Boston University professor to receive 2025 Eugene Braunwald Academic Mentorship Award

2025-10-06
Embargoed until 7 a.m. CT/8 a.m. ET, Monday, Oct. 6, 2025 DALLAS, Oct. 6, 2025 — Emelia J. Benjamin, M.D., FAHA, professor of medicine at Boston University (BU), will receive the 2025 Eugene Braunwald Academic Mentorship Award at the American Heart Association’s Scientific Sessions 2025. The meeting, to be held Nov. 7-10, 2025, in New Orleans, is a premier global exchange of the latest scientific advancements, research and evidence-based clinical practice updates in cardiovascular science. Dr. Benjamin will be recognized with the award during the Presidential Session on Sunday, Nov. 9, 2025. Named for legendary cardiologist Eugene ...

Pusan National University researchers reveal how forest soil properties influence arsenic mobility and toxicity in soil organisms

2025-10-06
Soil contamination is a global environmental concern, with toxic metals and metalloids from industrial activities persisting as long-term pollutants. Arsenic (As), although naturally occurring, becomes widespread when mobilized by mining. Abandoned gold mines are major sources, releasing arsenic-rich minerals into surrounding environments through erosion and leaching. Forest soils, essential for ecosystem health and biodiversity, are particularly vulnerable. Despite arsenic’s mobility under specific soil conditions and known toxicity, its behavior in forest soils and impacts on soil organisms remain poorly understood. In ...

Korea University researchers find sweet taste cells resist nerve damage through c-Kit protein

2025-10-06
Taste is one of our most vital senses, shaping appetite, nutrition, and quality of life. Yet taste buds are fragile, relying heavily on the nerves that connect them to the brain. When those nerves are cut or damaged, taste buds usually deteriorate — but later regenerate as nerves regrow. How this recovery occurs has remained unclear.  Now, a study led by Dr. Dong-Hoon Kim and Professor Yong Taek Jeong at Korea University College of Medicine, published in the International Journal of Oral Science ...

HealthFORCE, AAPA, and West Health release “Aging Well with AI” – first in a two part series on AI and the healthcare workforce

2025-10-06
Alexandria, Va. — October 6, 2025 — HealthFORCE, a national alliance of leaders dedicated to addressing the root causes of America’s healthcare workforce crisis, along with the American Academy of Physician Associates (AAPA) and West Health, today released “Aging Well with AI: Empowering Care through Innovation,” the first in a two-part white paper series exploring how artificial intelligence (AI) can strengthen the U.S. healthcare workforce and improve access to care. The paper was commissioned by the three ...

The real reasons Endurance sank — study finds Shackleton knew of ship’s shortcomings

2025-10-06
Sir Ernest Shackleton’s ship, Endurance, was crushed by Antarctic sea ice and sank in November 1915. Emblematic of the heroic age of Antarctic exploration, it is widely considered the strongest polar ship of its time, albeit with a fatal flaw — a weakness in the rudder that caused the ship to sink.  Now, a world-first study incorporating both technical analysis and research into diaries and correspondence sheds new light on the expedition and the man himself. Not only did the ship have structural weaknesses that made it notably less robust than other early polar vessels ...

Marine heatwaves have hidden impacts on ocean food webs and carbon cycling

2025-10-06
New research shows that marine heatwaves can reshape ocean food webs, which in turn can slow the transport of carbon to the deep sea and hamper the ocean’s ability to buffer against climate change. The study, published in the scientific journal Nature Communications today, was conducted by an interdisciplinary team of researchers from MBARI, the University of Miami Rosenstiel School of Marine, Atmospheric, and Earth Science, the Hakai Institute, Xiamen University, the University of British Columbia, the University of Southern Denmark, and Fisheries and Oceans Canada. To explore the impacts of marine heatwaves on ocean food webs and carbon flows, the research team combined multiple ...

Order from disordered proteins

2025-10-06
Key Takeaways Researchers at Harvard and Northwestern have developed a machine learning method that can design intrinsically disordered proteins with custom properties, addressing nearly 30% of all human proteins that are currently out of reach of AI tools like AlphaFold. The new approach uses automatic differentiation, traditionally a deep learning tool, to optimize protein sequences for desired properties. The method opens new possibilities for engineering proteins, directly from physics-based models, that do not fold into a specific shape. In synthetic and structural biology, advances in artificial intelligence have led to an explosion of designing new proteins with ...

Rocket test proves bacteria survive space launch and re-entry unharmed

2025-10-06
A world-first study has proven microbes essential for human health can survive the extreme forces of space launch. Space agencies are planning to send crews to Mars within decades but sustaining life on the red planet would be more difficult if important bacteria die during the flight. Now an Australian-led study has found the spores of Bacilus subtilis, a bacterium essential for human health, can survive rapid acceleration, short-duration microgravity and rapid deceleration. The spores of bacteria were launched high into ...

New wheat diversity discovery could provide an urgently-needed solution to global food security

2025-10-06
Wheat has a very large and complex genome. Researchers have found that different varieties can use their genes in different ways. By studying RNA—the molecules that carry out instructions from DNA—researchers can see which genes are active and when. By mapping this gene activity for the first time, researchers are able accelerate international wheat breeding programmes, developing new varieties of wheat which can adapt to the rapidly escalating climate emergency. Wheat is the most widely cultivated crop in the world, with over 215 million hectares grown annually. To meet the demands of a growing global population, plant breeders face ...

LAST 30 PRESS RELEASES:

Researchers find possible cause for increasing polarization

From soft to solid: How a coral stiffens its skeleton on demand

New software tool MARTi fast-tracks identification and response to microbial threats

Rare brain cell may hold the key to preventing schizophrenia symptoms

A new tool to find hidden ‘zombie cells’

New Cleveland Clinic research finds up to 5% of Americans carry genetic mutations associated with cancer risk

Once tadpoles lose lungs, they never get them back

Small group of users drive invasive species awareness on social media

One bad safety review can tank an Airbnb booking — Even among thousands of positive ones, new study finds

Text-based system speeds up hospital discharges to long-term care

California schools are losing tree canopy

How people learn computer programming

Exploring a mechanism of psychedelics

Scientists can now explore mechanisms behind attachment issues

Researchers watched students’ brains as they learned to program

An AI-powered lifestyle intervention vs human coaching in the diabetes prevention program

AI-powered diabetes prevention program shows similar benefits to those led by people

New study may transform diagnosis of Britain’s number one cancer

Stillbirths in the United States

How animals get their spots, and why they are beautifully imperfect

Stillbirths in the U.S. higher than previously reported, often occur with no clinical risk factors

Durability of 2024-2025 COVID-19 vaccines against JN.1 subvariants

Online unsupervised Tai Chi intervention for knee pain and function in people with knee osteoarthritis

A nose for microbes: how hunger tunes the brain

TRF1 protein loss reduces body fat and improves metabolic health in mice without shortening telomeres

JMIR Medical Education invites submissions on bias, diversity, inclusion, and cultural competence in medical education

SwRI receives $9.9 million contract to assess reliability of F-16 landing gear components

Computer scientists build AI tool to spot risky and unenforceable contract terms

Self-affirmations can boost well-being, study finds

New certification helps clinicians advance digital cardiac care

[Press-News.org] Texas Children’s researchers create groundbreaking tool to improve accuracy of genetic testing