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

New statistical method exponentially increases ability to discover genetic insights

2021-01-08
(Press-News.org) Pleiotropy analysis, which provides insight on how individual genes result in multiple characteristics, has become increasingly valuable as medicine continues to lean into mining genetics to inform disease treatments. Privacy stipulations, though, make it difficult to perform comprehensive pleiotropy analysis because individual patient data often can't be easily and regularly shared between sites. However, a statistical method called Sum-Share, developed at Penn Medicine, can pull summary information from many different sites to generate significant insights. In a test of the method, published in Nature Communications, Sum-Share's developers were able to detect more than 1,700 DNA-level variations that could be associated with five different cardiovascular conditions. If patient-specific information from just one site had been used, as is the norm now, only one variation would have been determined.

"Full research of pleiotropy has been difficult to accomplish because of restrictions on merging patient data from electronic health records at different sites, but we were able to figure out a method that turns summary-level data into results that are exponentially greater than what we could accomplish with individual-level data currently available," said the one of the study's senior authors, Jason Moore, PhD, director of the Institute for Biomedical Informatics and a professor of Biostatistics, Epidemiology and Informatics. "With Sum-Share, we greatly increase our abilities to unveil the genetic factors behind health conditions that range from those dealing with heart health, as was the case in this study, to mental health, with many different applications in between."

Sum-Share is powered by bio-banks that pool de-identified patient data, including genetic information, from electronic health records (EHRs) for research purposes. For their study, Moore, co-senior author Yong Chen, PhD, an associate professor of Biostatistics, lead author Ruowang Li, PhD, a post-doc fellow at Penn, and their colleagues used eMERGE to pull seven different sets of EHRs to run through Sum-Share in an attempt to detect the genetic effects between five cardiovascular-related conditions: obesity, hypothyroidism, type 2 diabetes, hypercholesterolemia, and hyperlipidemia.

With Sum-Share, the researchers found 1,734 different single-nucleotide polymorphisms (SNPs, which are differences in the building blocks of DNA) that could be tied to the five conditions. Then, using results from just one site's EHR, only one SNP was identified that could be tied to the conditions.

Additionally, they determined that their findings were identical whether they used summary-level data or individual-level data in Sum-Share, making it a "lossless" system.

To determine the effectiveness of Sum-Share, the team then compared their method's results with the previous leading method, PheWAS. This method operates best when it pulls what individual-level data has been made available from different EHRs. But when putting the two on a level playing field, allowing both to use individual-level data, Sum-Share was statistically determined to be more powerful in its findings than PheWAS. So, since Sum-Share's summary-level data findings have been determined to be as insightful as when it uses individual-level data, it appears to be the best method for determining genetic characteristics.

"This was notable because Sum-Share enables loss-less data integration, while PheWAS loses some information when integrating information from multiple sites," Li explained. "Sum-Share can also reduce the multiple hypothesis testing penalties by jointly modeling different characteristics at once."

Currently, Sum-Share is mainly designed to be used as a research tool, but there are possibilities for using its insights to improve clinical operations. And, moving forward, there is a chance to use it for some of the most pressing needs facing health care today.

"Sum-Share could be used for COVID-19 with research consortia, such as the Consortium for Clinical Characterization of COVID-19 by EHR (4CE)," Yong said. "These efforts use a federated approach where the data stay local to preserve privacy."

INFORMATION:

This study was supported by the National Institutes of Health (grant number NIH LM010098).

Co-authors on the study include Rui Duan, Xinyuan Zhang, Thomas Lumley, Sarah Pendergrass, Christopher Bauer, Hakon Hakonarson, David S. Carrell, Jordan W. Smoller, Wei-Qi Wei, Robert Carroll, Digna R. Velez Edwards, Georgia Wiesner, Patrick Sleiman, Josh C. Denny, Jonathan D. Mosley, and Marylyn D. Ritchie.



ELSE PRESS RELEASES FROM THIS DATE:

Entangling electrons with heat

Entangling electrons with heat
2021-01-08
A joint group of scientists from Finland, Russia, China and the USA have demonstrated that temperature difference can be used to entangle pairs of electrons in superconducting structures. The experimental discovery, published in Nature Communications, promises powerful applications in quantum devices, bringing us one step closer towards applications of the second quantum revolution. The team, led by Professor Pertti Hakonen from Aalto University, has shown that the thermoelectric effect provides a new method for producing entangled electrons in a new device. "Quantum entanglement is the cornerstone of the novel quantum technologies. This concept, however, has puzzled many physicists over the years, including Albert Einstein who worried a lot about the ...

Engineers find antioxidants improve nanoscale visualization of polymers

Engineers find antioxidants improve nanoscale visualization of polymers
2021-01-08
Reactive molecules, such as free radicals, can be produced in the body after exposure to certain environments or substances and go on to cause cell damage. Antioxidants can minimize this damage by interacting with the radicals before they affect cells. Led by Enrique Gomez, professor of chemical engineering and materials science and engineering, Penn State researchers have applied this concept to prevent imaging damage to conducting polymers that comprise soft electronic devices, such as organic solar cells, organic transistors, bioelectronic devices and flexible electronics. The researchers ...

Initial severity of COVID-19 not associated with later respiratory complications

Initial severity of COVID-19 not associated with later respiratory complications
2021-01-08
Jan. 8, 2021 - A new study published online in the Annals of the American Thoracic Society examines the recovery of lung function and overall wellness in individuals who had varying degrees of COVID-19 severity. Little is known about lung health following infection with SARS-CoV-2, the virus that causes COVID-19, and whether later respiratory problems, fatigue and ill health are associated with the disease's initial severity. In " END ...

When salespeople advocate for sellers and customers

2021-01-08
Researchers from Oklahoma State University, University of Missouri, Iowa State University, and University of Georgia published a new paper in the Journal of Marketing that investigates the question of how salespeople should balance advocacy for the seller with advocacy for the customer. The study, forthcoming in the Journal of Marketing, is titled "Salesperson Dual Agency in Price Negotiations" and is authored by Justin Lawrence, Lisa Scheer, Andrew Crecelius, and Son Lam. How should salespeople represent both the seller and the customer when their interests diverge, as in pricing negotiations? The research team extends a dual agency framework to the sales domain and examines the salesperson's role throughout the three stages of the discount process: (a) the ...

High-speed atomic force microscopy visualizes cell protein factories

High-speed atomic force microscopy visualizes cell protein factories
2021-01-08
Ribosomes are the complexes of ribonucleoproteins at the heart of protein synthesis in cells. However in the absence of conclusive evidence, how these complexes operate has been open to debate. Now Hirotatsu Imai and Noriyuki Kodera at Kanazawa University, alongside Toshio Uchiumi at Niigata University in Japan, show visualizations of the structural dynamics and factor pooling that take place at ribosome stalk proteins as they build new proteins. Ribosomes were first discovered in the 1950s and their broad function has been widely understood for some time - they read messenger RNA sequences and from that generate sequences of correctly ordered amino acids into new proteins. The ribosome stalk protein in particular plays an ...

Preserving workers' hearing health by improving earplug efficiency

Preserving workers hearing health by improving earplug efficiency
2021-01-08
Noise exposure accounts for 22% of worldwide work-related health problems. Excessive noise not only causes hearing loss and tinnitus, but also increases the risk of cardiovascular diseases. To provide protection, workers normally wear earplugs. However, commonly available earplugs are often uncomfortable, since they don't fit everyone's ears equally well. How could we improve the comfort and effectiveness of these earplugs? What aspects of the ear canal must be taken into account? To answer these questions, researchers from the École de technologie supérieure (ÉTS University) and the Institut de recherche en santé et sécurité ...

Free all non-violent criminals jailed on minor drug offences, say experts

2021-01-08
Non-violent offenders serving time for drug use or possession should be freed immediately and their convictions erased, according to research published in the peer-reviewed The American Journal of Bioethics. More than 60 international experts including bioethicists, psychologists and drug experts have joined forces to call for an end to the war on drugs which they argue feeds racism. All drugs currently deemed illicit - even crack cocaine and heroin - should be decriminalized as a matter of urgency, according to this new alliance. Legalisation and regulation should then follow with restrictions on age, advertising and licensing, they say. They have analysed evidence from over 150 studies and reports, concluding that prohibition unfairly affects Black people, damages communities, ...

Heading outdoors keeps lockdown blues at bay

2021-01-08
A new study has found that spending time outdoors and switching off our devices is associated with higher levels of happiness during a period of COVID-19 restrictions. Previous academic studies have indicated how being outdoors, particularly in green spaces, can improve mental health by promoting more positive body image, and lowering levels of depression and anxiety. Jointly led by academics from Anglia Ruskin University (ARU) in the UK, the Karl Landsteiner University of Health Sciences in Austria, and Perdana University in Malaysia, this new research examined how levels ...

Study finds commonly used blood pressure medications safe for COVID-19 patients

2021-01-08
PHILADELPHIA--Medications to treat high blood pressure did not affect outcomes among patients hospitalized with COVID-19, found an international team led by researchers in the Perelman School of Medicine at the University of Pennsylvania. The study, published today in The Lancet Respiratory Medicine, is the first randomized controlled trial to show there is no risk for patients continuing these medications while hospitalized for COVID-19. As part of the REPLACE COVID trial, investigators examined whether ACE inhibitors (ACEIs) or Angiotensin Receptor Blockers (ARBs) -- two classes of medications to treat high blood pressure -- ...

Study: e-cigarettes trigger inflammation in the gut

Study: e-cigarettes trigger inflammation in the gut
2021-01-07
Touted by makers as a "healthy" alternative to traditional nicotine cigarettes, new research indicates the chemicals found in e-cigarettes disrupt the gut barrier and trigger inflammation in the body, potentially leading to a variety of health concerns. In the study, published Jan. 5, 2021 in the journal END ...

LAST 30 PRESS RELEASES:

New evidence of long-distance travelers in Seddin during the Bronze Age

Newly dated 85-million-year-old dino eggs could improve understanding of Cretaceous climate

From noise to power: A symmetric ratchet motor discovery

Family-based intervention programs are insufficient to prevent childhood obesity, major study finds

Emotions expressed in real-time barrage comments relate to purchasing intentions and imitative behavior

Your genes could prune your gut bugs and protect you from disease

EMBARGOED MEDIA RELEASE: Breathlessness increases long-term mortality risk, Malawi study finds

Permeable inspection of pharmaceuticals goes in-line

Warming rivers in Alaska threaten Chinook salmon populations and Indigenous food security

New multi-disciplinary approach sheds light on the role of mitochondrial DNA mutations in cancer

Worms reveal just how cramped cells really are

Alzheimer’s disease digital resources lacking for Latinos, Hispanics in Los Angeles years after COVID-19, study finds

Chronic disease deaths decline globally, but progress is slowing

The Lancet: Chronic disease deaths decline globally, but progress is slowing

The Lancet: Parent-focused programs insufficient to prevent obesity in toddlers, finds meta-analysis; authors call for a re-think of childhood obesity prevention approaches

Study sheds light on hurdles faced in transforming NHS healthcare with AI

Astrocytic “brake” that blocks spinal cord repair identified

As farm jobs decline, food industry work holds steady

Kennesaw State researcher aiming to move AI beyond the cloud

Revolutionizing impedance flow cytometry with adjustable microchannel height

Treating opioid addiction in jails improves treatment engagement, reduces overdose deaths and reincarceration

Can’t sleep? Insomnia associated with accelerated brain aging

Study links teacher turnover to higher rates of student suspensions, disciplinary referrals

How harmful bacteria hijack crops

Crowded conditions muddle frogs’ mating choices

A new way to guide light, undeterred

Researchers uncover how COVID-19 may linger in cancer patients and affect treatment outcomes

Tiny metal figurines from Sardinia's Nuragic civilization in around 1,000 BC reveal extensive ancient Mediterranean metal trading networks

Natural microfibers may degrade differently to synthetic materials under simulated sunlight exposure in freshwater and seawater conditions, with implications for how such pollutants affect aquatic lif

Indian new mums report better postpartum wellbeing when their own mum acts as their primary support - while women whose mother-in-law is the primary caregiver instead report significantly lower overal

[Press-News.org] New statistical method exponentially increases ability to discover genetic insights