Due to the ever-increasing data collected in genomic breeding programs, there is a need for genomic prediction models that can deal better with big data. For this reason, here we propose a Maximum Threshold Genomic Prediction (MAPT) model for ordinal traits that is more efficient than the conventional Bayesian Threshold Genomic Prediction model for ordinal traits. The MAPT performs the predictions of the Threshold Genomic Prediction model by using the maximum estimation of the parameters, that is, the values of the parameters that maximize the joint posterior density. We compared the prediction performance of the proposed MAPT to the conventional Bayesian Threshold Genomic Prediction model, the multinomial Ridge regression and support vector machine on 8 real data sets. We found that the proposed MAPT was competitive with regard to the multinomial and support vector machine models in terms of prediction performance, and slightly better than the conventional Bayesian Threshold Genomic Prediction model. With regard to the implementation time, we found that in general the MAPT and the support vector machine were the best, while the slowest was the multinomial Ridge regression model. However, it is important to point out that the successful implementation of the proposed MAPT model depends on the informative priors used to avoid underestimation of variance components.
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http://dx.doi.org/10.1534/g3.120.401733 | DOI Listing |
Sci Data
January 2025
Department of Crop Science, Chungnam National University, Daejeon, 34134, Korea.
Salvia sclarea is a medicinal herb from the Lamiaceae family, valued for its essential oil which contains sclareol, linalool, linalyl acetate, and other compounds. Despite its extensive use, the genetic mechanisms of S. sclarea are not well understood.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.
View Article and Find Full Text PDFBMC Microbiol
January 2025
Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Lab of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, 200237, China.
Background: Recurrent vaginitis in conjunction with urinary tract infection (RV/UTI) in perimenopausal women is a common clinical condition that impacts both doctors and patients. Its pathogenesis is not completely known, but the urogenital microbiota is thought to be involved. We compared the urogenital and gut microbiotas of perimenopausal women experiencing RV/UTI with those of age-matched controls to provide a new microbiological perspective and scheme for solving clinical problems.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Hematology/Oncology, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.
Carcinoma of unknown primary (CUP) comprises 2-5% of cancer diagnoses worldwide, with a prevalence that has modestly declined with increased availability of advanced diagnostic tools such as next-generation sequencing (NGS). This case presentation illustrates the possibilities and gaps that remain with improving diagnostic capabilities in identifying and effectively treating CUP. This is the case of a rapidly enlarging right axillary mass without a primary tumour site and histological evaluation demonstrating a poorly differentiated neoplasm.
View Article and Find Full Text PDFPathology
December 2024
Department of Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Perth, WA, Australia; School of Medicine, Notre Dame University, Fremantle, WA, Australia. Electronic address:
Intraepidermal squamous neoplasia is a precursor to invasive cutaneous squamous cell carcinoma. The most common type of intraepidermal squamous neoplasia is actinic keratosis (AK), although there is compelling clinicopathological evidence of a second distinct pattern of squamous dysplasia termed Bowen disease (BD). The distinction between these pathways of dysplasia has been inconsistently delineated in the literature.
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