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Новости за 07.01.2025

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Improving polygenic prediction from summary data by learning patterns of effect sharing across multiple phenotypes

Plos.org 
En

by Deborah Kunkel, Peter Sørensen, Vijay Shankar, Fabio Morgante

Polygenic prediction of complex trait phenotypes has become important in human genetics, especially in the context of precision medicine. Recently, mr.mash, a flexible and computationally efficient method that models multiple phenotypes jointly and leverages sharing of effects across such phenotypes to improve prediction accuracy, was introduced. However, a drawback of mr.mash is that it requires individual-level data, which are often not publicly available. Читать дальше...

Benchmarking uncertainty quantification for protein engineering

Plos.org 
En

by Kevin P. Greenman, Ava P. Amini, Kevin K. Yang

Machine learning sequence-function models for proteins could enable significant advances in protein engineering, especially when paired with state-of-the-art methods to select new sequences for property optimization and/or model improvement. Such methods (Bayesian optimization and active learning) require calibrated estimations of model uncertainty. While studies have benchmarked a variety of deep learning uncertainty quantification (UQ) methods... Читать дальше...

Intraneuronal binding of amyloid beta with reelin—Implications for the onset of Alzheimer’s disease

Plos.org 
En

by Asgeir Kobro-Flatmoen, Stig W. Omholt

Numerous studies of the human brain supported by experimental results from rodent and cell models point to a central role for intracellular amyloid beta (Aβ) in the onset of Alzheimer’s disease (AD). In a rat model used to study AD, it was recently shown that in layer II neurons of the anteriolateral entorhinal cortex expressing high levels of the glycoprotein reelin (Re+alECLII neurons), reelin and Aβ engage in a direct protein–protein interaction. Читать дальше...

Aggregating multiple test results to improve medical decision-making

Plos.org 
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by Lucas Böttcher, Maria R. D’Orsogna, Tom Chou

Gathering observational data for medical decision-making often involves uncertainties arising from both type I (false positive) and type II (false negative) errors. In this work, we develop a statistical model to study how medical decision-making can be improved by aggregating results from repeated diagnostic and screening tests. Our approach is relevant to not only clinical settings such as medical imaging, but also to public health, as highlighted by the need for rapid... Читать дальше...

Conserved features of recombination control in vertebrates

Plos.org 
En

by Linda Odenthal-Hesse

A recent study in PLOS Biology on the epigenetic recombination regulator PRDM9 in salmonid fish reveals that its function has been preserved across vertebrates for hundreds of millions of years, with rapidly evolving DNA-binding domains being a defining attribute. This Primer explores a recent study in PLOS Biology on the epigenetic recombination regulator PRDM9 in salmonid fish, which reveals that its function has been preserved across vertebrates for hundreds of millions of years... Читать дальше...

ACC Teams Making Free Money Pay Off

Duke Basketball Report 
En

DALLAS, TX - JANUARY 04: Duke Blue Devils forward Cooper Flagg (#2) takes a free throw during the college basketball game between the SMU Mustangs and the Duke Blue Devils on January 4, 2025, at Moody Coliseum in Dallas, TX. | Photo by Matthew Visinsky/Icon Sportswire via Getty Images

Freedom’s just another word for converting from the line

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