Results 191 to 200 of about 2,929,620 (353)

The use of polygenic risk scores to identify phenotypes associated with genetic risk of schizophrenia: Systematic review [PDF]

open access: green, 2017
Sumit Mistry   +4 more
openalex   +1 more source

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors

open access: yesJournal of Genetic Counseling, EarlyView.
Abstract Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death.
Erin M. Miller   +7 more
wiley   +1 more source

A generalised approach to the study and understanding of adaptive evolution

open access: yesBiological Reviews, Volume 98, Issue 1, Page 352-375, February 2023., 2023
ABSTRACT Evolutionary theory has made large impacts on our understanding and management of the world, in part because it has been able to incorporate new data and new insights successfully. Nonetheless, there is currently a tension between certain biological phenomena and mainstream evolutionary theory.
Pim Edelaar, Jun Otsuka, Victor J. Luque
wiley   +1 more source

Polygenic risk score of sporadic late‐onset Alzheimer's disease reveals a shared architecture with the familial and early‐onset forms [PDF]

open access: green, 2017
Carlos Cruchaga   +16 more
openalex   +1 more source

Toward a Refined PI‐RADS: The Feasibility and Limitations of More Informative Metrics in Reviewing MRI Scans

open access: yesJournal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT The Prostate Imaging–Reporting and Data System (PI‐RADS) is a widely‐adopted framework for assessing prostate cancer risk using multiparametric MRI. However, as advancements in imaging and data analytics emerge, PI‐RADS faces pressure to integrate novel quantitative techniques, enhanced imaging protocols, and artificial intelligence (AI ...
Omer Tarik Esengur   +3 more
wiley   +1 more source

A Robust Bayesian Method for Building Polygenic Risk Scores using Projected Summary Statistics and Bridge Prior [PDF]

open access: yesarXiv
Polygenic risk scores (PRS) developed from genome-wide association studies (GWAS) are of increasing interest for clinical and research applications. Bayesian methods have been popular for building PRS because of their natural ability to regularize models and incorporate external information. In this article, we present new theoretical results, methods,
arxiv  

Beyond traditional orthopaedic data analysis: AI, multimodal models and continuous monitoring

open access: yesKnee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
Abstract Multimodal artificial intelligence (AI) has the potential to revolutionise healthcare by enabling the simultaneous processing and integration of various data types, including medical imaging, electronic health records, genomic information and real‐time data.
Felix C. Oettl   +7 more
wiley   +1 more source

Polygenic Risk Score Combined with Transcranial Sonography Refines Parkinson's Disease Risk Prediction

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Dopaminergic neuron depletion in the substantia nigra (SN) and the pathological aggregation of α‐synuclein are the neuropathological hallmarks of Parkinson's disease (PD). Objectives This study aimed to investigate the association between the polygenic risk score for PD (PD‐PRS) and transcranial sonography (TCS)‐measured SN ...
Mart Kals   +11 more
wiley   +1 more source

Uncertainty of high-dimensional genetic data prediction with polygenic risk scores [PDF]

open access: yesarXiv
In many predictive tasks, there are a large number of true predictors with weak signals, leading to substantial uncertainties in prediction outcomes. The polygenic risk score (PRS) is an example of such a scenario, where many genetic variants are used as predictors for complex traits, each contributing only a small amount of information.
arxiv  

Schizophrenia polygenic risk score and psychotic risk detection [PDF]

open access: bronze, 2017
Michele Poletti   +2 more
openalex   +1 more source

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