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| http://dx.doi.org/10.1002/mdc3.13009 | DOI Listing |
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Non-syndromic orofacial clefts (NSOC) are common craniofacial birth defects, and result from both genetic and environmental factors. NSOC include three major sub-phenotypes: non-syndromic cleft lip with palate (NSCLP), non-syndromic cleft lip only (NSCLO) and non-syndromic cleft palate only (NSCPO), NSCLP and NSCLO are also sometimes grouped as non-syndromic cleft lip with or without cleft palate (NSCL/P) based on epidemiology. Currently known loci only explain a limited proportion of the heritability of NSOC.
View Article and Find Full Text PDFComparative analysis of stomatal pore instance segmentation: Mask R-CNN vs. YOLOv8 on Phenomics Stomatal dataset.
Front Plant Sci
December 2024
Department of Plant Resources and Environment, Jeju National University, Jeju, Republic of Korea.
This study conducts a rigorous comparative analysis between two cutting-edge instance segmentation methods, Mask R-CNN and YOLOv8, focusing on stomata pore analysis. A novel dataset specifically tailored for stomata pore instance segmentation, named PhenomicsStomata, was introduced. This dataset posed challenges such as low resolution and image imperfections, prompting the application of advanced preprocessing techniques, including image enhancement using the Lucy-Richardson Algorithm.
View Article and Find Full Text PDFCharacterization of genetic diversity and identification of genetic loci associated with carbon allocation in N fixing soybean.
BMC Genomics
December 2024
Division of Plant Science and Technology, University of Missouri, Columbia, MO, USA.
Background: Efficient capture and use of resources is critical for optimal plant growth and productivity. Both shoot and root growth are essential for resource acquisition, namely light and CO by the shoot and water and mineral nutrients by roots. Soybean [Glycine max (L.
View Article and Find Full Text PDFFamilial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia.
Am J Med Genet A
December 2024
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%-50% of patients. This phenotypic variability is partially explained by genotype-phenotype correlations, with several ribosomal protein genes implicated in this disorder. Most cases are due to de novo variants, but familial occurrences highlight variable expressivity and reduced penetrance.
View Article and Find Full Text PDFDevelopment and Validation of a Nutritional Frailty Phenotype for Older Adults Based on Risk Prediction Model: Results From a Population-Based Prospective Cohort Study.
J Am Med Dir Assoc
December 2024
School of Nursing, Peking University, Beijing, China. Electronic address:
Objectives: Malnutrition is generally studied to be involved in outlining hazard frailty trajectories, resulting in adverse outcomes. In view of frailty's multidimensional nature, we aimed to assess the contribution of nutritional items in existing frailty tools to adverse outcomes, and develop and validate a nutritional frailty phenotype based on machine learning.
Design: A population-based prospective cohort study.
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