Articles tagged with Phenotypes
A recent study suggests that cerebral palsy (CP) may be a collection of symptoms that can occur in various conditions, rather than a single disease with genetic causes. The research found that only 89 of 515 genes previously linked to CP have a statistically significant association with the condition.
A decade-long review of Kids First DRC shows how shared data expands research opportunities across diseases, institutions, and scientific disciplines. The resource has supported findings with potential to improve diagnosis, risk assessment, and treatment in pediatric care.
Researchers have identified a naturally occurring gut molecule that strengthens chickens' immune response against bacterial infections. The compound, sodium butyrate, reprograms chicken immune cells to fight diseases without causing inflammation.
Researchers from The University of Osaka identified a unique genetic pattern in carcinoma cuniculatum, a rare type of oral cancer with slower growth and lower risk of spread. This discovery may lead to improved diagnosis and targeted treatment for this challenging-to-diagnose condition.
A new study found that fexaramine, a gut-targeted drug, improved both metabolic and reproductive problems in PCOS model mice. The treatment restored disrupted menstrual cycles, reduced ovarian follicles, and lowered testosterone levels, suggesting a potential new approach to treating PCOS.
A custom-built AI system helped uncover how bacterial communities organize themselves, showing that early moments of a biological transition carry more information than previously considered. The findings bring new insight into the relationship between genotype and phenotype in Myxococcus xanthus.
The study found that women with pregnancy-associated spontaneous coronary artery dissection (P-SCAD) have a higher risk of cardiovascular events, including dissections and aneurysms. Women with P-SCAD also experienced less recovery in left ventricular ejection fraction compared to those without P-SCAD.
Emerging research across conceptual frameworks, biomarker science, digital phenotyping, and artificial intelligence synthesizes a translational pathway toward a more biologically grounded and clinically useful approach to psychiatric diagnosis. The current system falls short due to standardized clinical language and lack of biological ...
Researchers from ISTA developed an algorithm that can extract and analyze information from the world’s most extensive biobank with unprecedented accuracy and speed. The method, dubbed gVAMP, enhances the framework's ability to extract complex information from the dataset at hand, providing a detailed overview of the effects on a trait ...
Researchers at Flinders University discover a genetic mutation that silences a brain receptor, rendering it unresponsive to both natural trace amines and clinical drug candidates. The C182F variant eliminates receptor signaling and reduces cell surface expression, with profound implications for emerging psychiatric treatments.
A substantial prevalence of avoidant/restrictive food intake was found in the general pediatric population, with affected children at risk of developmental difficulties across multiple domains. The study suggests a need for broad support interventions and advances understanding of the genetic underpinnings of this condition.
The Variant Workbench enables researchers to explore genetic data in a single, integrated workspace, linking genomic information with clinical conditions. By reducing data complexity, the tool facilitates scientific discovery and accelerates pace of research.
A new study calls for standardized, transparent, and reproducible methods to evaluate frailty in preclinical aging studies. The researchers analyzed 18 rodent studies and found substantial variation in how frailty is defined and measured.
Researchers from NUS have tracked changes in gene expression and splicing patterns in skeletal muscle after a 16-week lifestyle intervention program involving supervised exercise and dietary changes. The study found that participants lost weight and improved insulin sensitivity, with specific genes showing evidence of G x L interaction.
Researchers created a digital twin to detect disease risk, initiate preventive treatment, and simulate effective treatments. The model uses extensive human data from the Human Phenotype Project to identify deviations from expected physiological changes in 17 body systems.
Researchers developed a new computational tool using generative AI to identify key gene combinations underlying complex illnesses. The method amplifies limited gene expression data, enabling researchers to resolve patterns of gene activity that cause complex traits.
Scientists have identified a brain molecule called NEAT1 that appears to play a central role in triggering light sensitivity (photophobia) during migraines. By disrupting the normal balance of nerve signaling and pain regulation, NEAT1 makes nerves more sensitive to light.
Researchers have discovered that inhibiting the metalloprotease ADAM19 can reduce gut inflammation and cell aging markers across species. The study found that blocking ADAM19 reduced gut damage and inflammation in fruit flies, mice, and human cells, offering a promising path for creating treatments to maintain healthy tissues.
Researchers developed dynamicGP, a computational approach that predicts trait dynamics across development in crops. The method outperforms state-of-the-art genomic prediction approaches for multiple traits, especially those with low heritability over time.
A cutting-edge AI method, EasyDAM_V4, enables automatic labeling of fruit datasets with high accuracy and adapts to diverse species. The breakthrough reduces manual labeling costs while improving detection accuracy, paving the way for automated and sustainable agriculture.
Two comprehensive datasets from the Gabriella Miller Kids First Pediatric Research Program explore childhood cancers and congenital disorders. The new datasets aim to identify genetic causes and links between these diseases in children, ultimately supporting the development of improved treatments.
A scoping review found associations between myositis disease activity and gluten exposure in patients with inflammatory myopathies and celiac disease. The study suggests that gluten may act as an exogenous antigen driving myositis in genetically predisposed patients.
Researchers found a strong link between depression and menstrual pain in a new study published in Briefings in Bioinformatics. Depression may be a cause of dysmenorrhea, rather than a consequence, according to the findings.
This systematic review analyzes 33 biological clocks used for aging and mortality quantification, categorizing them into epigenetic and phenotypic clocks. Epigenetic clocks demonstrate precision in estimating chronological age through DNA methylation, while phenotypic clocks predict mortality using easily measurable clinical variables.
Researchers developed an AI pose estimation method that accurately detects and localizes root system landmarks across multiple plant species, bypassing traditional segmentation methods. The approach achieved high precision with median errors below 1% of root length, enabling robust genotype classification and phenotypic trait mapping.
A new study by UCLA Health reveals that standard medical record surveillance methods miss youth with suicidal thoughts and behaviors in children, boys, and Black and Hispanic youths. Machine learning algorithms improved detection rates when incorporating additional data from visit notes.
Researchers found that ACLY activity activates the senescence-associated secretory phenotype (SASP), a pro-inflammatory environment associated with chronic inflammation and aging. Blocking ACLY activity reduces inflammation-related genes in aged cells, suggesting a potential strategy for managing aging and age-related diseases.
Researchers developed a frailty screening questionnaire that predicts short-term mortality in dogs aged 10 and older. The tool, combined with veterinarian assessments of body and muscle condition, is a simple yet effective predictor of canine frailty.
A new study found that 2-bromopalmitate treatment reverses cell senescence in human vascular smooth muscle cells, reducing DNA damage markers and promoting cell proliferation. The research suggests a critical role for protein palmitoylation in regulating the senescent phenotype.
A new study mapped genes linked to schizophrenia and uncovered a mechanism disrupting synaptic plasticity in affected individuals. The researchers identified three proteins mediating impairments of plasticity, holding promise for new treatments.
Very intensive lipid-lowering therapy significantly regresses atheroma volume at the lesion level compared to statin therapy alone. This study found greater enlargement of the minimum lumen area and more frequent transition to stable plaque phenotypes with alirocumab treatment.
A multi-university research team led by University of Virginia engineering professor Gustavo K. Rohde has developed a system that can accurately spot genetic markers of autism in brain images. The system uses generative computer modeling technique called transport-based morphometry, which reveals brain structure patterns that predict v...
Researchers developed a tool to identify high-risk children and adolescents with pediatric postacute sequelae of SARS-CoV-2 infection (PASC), also known as long COVID. The study found that symptoms differed by age group, with some similarities but distinct patterns across childhood ages.
A new study found that routine laboratory tests are not reliable for diagnosing Long COVID, with no biomarker among 25 clinical laboratory values providing a clinically useful diagnosis. The researchers suggest treating symptoms rather than relying on lab results to diagnose the condition.
A study on wild tomato species reveals that a plant's vigor plays a significant role in its salt tolerance. The researchers found correlations between traits like transpiration rate, shoot mass, and ion accumulation with plant performance under salt stress.
A KAUST-led study reveals that plant trait diversity increases above an aridity threshold of 0.7, challenging the view that harsh environments reduce biodiversity. The research found that chemical and morphological traits respond similarly to changes in aridity and grazing pressure.
Researchers from Tokyo Metropolitan University found that genes on newly formed neo-sex chromosomes in fruit flies tend to evolve sex-biased genes, which give sex-specific phenotypes. This strongly supports the hypothesis that sex chromosomes reduce sexual conflict by imparting beneficial traits to each sex.
The paper explores evolving landscape of genetics research into obesity, emphasizing both new discoveries and challenges. Researchers highlight complexity of body weight regulation and advocate for precise phenotyping methods targeting relevant and refined phenotypes related to adiposity.
Researchers at UCLA Health Sciences identified three distinct patient preference-based profiles among men with low-risk prostate cancer. Despite differences in preferences, physician recommendations played a crucial role in determining treatment choices. The study highlights the need for better integrating patient preferences into trea...
Researchers created a new cell model to study the effects of senescence on lung fibroblasts. Senescent alveolar epithelial cells triggered fibrotic activation in lung fibroblasts, which was attenuated by senolytic therapy.
Researchers have developed a multi-component hydrogel scaffold to mimic the amyloid-beta containing microenvironment associated with AD. The study found elevated levels of neuroinflammation and apoptosis markers in healthy neuronal progenitor cells cultured within this environment.
Researchers developed a novel method combining computer vision and deep learning for drought-stressed poplar saplings, achieving 99% variety identification accuracy. The methods proposed hold significant potential for drought-resistant poplar screening and precise irrigation decision-making.
Researchers combined DNA markers from two genotyping systems to improve genomic predictions and GWAS for 24 fruit traits. The results showed increased accuracy and detection power when using combined datasets, suggesting benefits to leveraging historical data.
The DEKR-SPrior model significantly reduces the mean absolute error in pod phenotyping compared to existing models, offering a valuable tool for enhancing crop yield predictions. It demonstrates superior accuracy in accurately detecting and counting soybean pods and seeds.
Researchers used AI to analyze over 16,000 butterfly images, finding both males and females contribute to diversity among species. The study resolves a century-old debate between Charles Darwin and Alfred Russel Wallace on the role of natural selection in female evolution.
Hybrids between two manakin species in Panama have remained relatively stable over the past 30 years, with minimal changes in genomic markers. The phenotypic transition zone also shows stability, with only one trait having shifted location, suggesting a potential selection for green bellies.
A decade-long study has discovered a vast untapped genetic potential in modern wheat varieties, revealing that at least 60% of the genetic diversity found in a historic collection is unused. This discovery provides an unprecedented opportunity to improve modern wheat and sustainably feed a growing global population. The study used a cr...
The Kids First DRC has introduced an upgraded data portal to streamline big data search and analysis, improving collaborative pediatric research outcomes. The new portal integrates diverse datasets, including genomic information from the Children's Brain Tumor Network, to foster cross-disciplinary research.
A new system developed by Boyce Thompson Institute makes affordable, mobile and high-throughput phenotyping tools accessible worldwide. This allows researchers to conduct data-driven studies on plant growth and responses over time, accelerating breeding of more resilient crop varieties.
Researchers have identified collagen features as valuable biomarkers for evaluating melanoma immunotherapy response. Single-fiber characteristics were found to be more sensitive to treatment-induced changes than bulk collagen features, offering insights into collagen remodeling over time.
Weo electrolyzed water (WEW) has been shown to attenuate cellular senescence in both normal fibroblasts and breast cancer cells. The study found that WEW modulated markers of cellular senescence, inflammation, and stress response genes in a cell type-dependent manner.
Researchers discuss therapeutic opportunities for hypermutated urothelial carcinomas that are resistant to immunotherapy, including the potential of targeted therapies. High TMB is associated with defects in mismatch repair proteins and can lead to increased sensitivity to cancer treatments.
Researchers found associations between inflammatory and metabolic biomarkers and accelerated aging, with GlycA and GrimAge showing robust correlations. The study provides insight into the relationship between aging and cardiometabolic health, potentially informing vulnerable populations.
The VA has launched CIPHER, an online searchable library of EHR-based phenotypes, data mappings, and tools for data visualization. This platform aims to improve the use of complex health data, leading to better care for Veterans and others.
Researchers investigate senescence phenotypes of human corneal endothelial cells upon treatment with ultraviolet (UV)-A. Cells exhibit enlarged morphology, increased β-galactosidase activity and decreased proliferation. UV-A-induced senescent cells show similar gene expression profiles to ionizing radiation (IR)-induced cells.
Using AI software called SLEAP, scientists at Salk Institute are designing climate-saving plants with optimized root systems that can store more carbon. This approach enables researchers to analyze plant features and connect desirable traits to targetable genes, accelerating the development of carbon-capturing plants.
Long-term BMI variability was a significant risk marker for adverse cardiovascular events, independent of mean BMI, across major racial and ethnic groups. The study's findings have implications for the phenotype of high BMI variability and potential preventive measures.
Researchers at the University of Alabama at Birmingham discovered that the ALG6 variant is associated with altered phenotypes in patients with RP59, including delayed peripheral rod degeneration and diminished macular cone photoreceptor health. This study highlights the complex effects of modifier genes in human genetic disease.
A new study uses UAV technology and deep learning to analyze soybean growth, improving yield predictions by extracting key phenotypic parameters. The approach enables high-throughput field experiments and provides insights for breeding higher-yielding soybean varieties.
This study leverages attention mechanisms based deep learning models to improve spike detection in greenhouse cultivated grain crops. The Swin Transformer model demonstrates superior accuracy, while the FRCNN-A provides a faster training alternative.