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Decision-making in healthcare often relies on narrative guidelines; however, these instruments are poorly accessible for supporting clinical decision-making. This study explores the application of rule-based decision logic in algorithmic modeling, emphasizing its great potential in clinical decision support and research. Integrating rule-based algorithms with existing information systems and real-world data poses a serious challenge. Integrating decision algorithms with information standards increases their effectiveness across various applications. This study outlines a method for constructing clinical decision trees (CDTs), highlighting their transparency and interpretability, using information standards as a design principle. We use the digitization of the Dutch breast cancer guideline through CDTs as a case study to exemplify their versatility and practical significance. The process step 'primary treatment' has been successfully translated from the narrative guidelines format to the anticipated ted computational format.

The reuse of real-world symptom monitoring data is essential in improving the quality of hospice care. A framework for achieving this is a Learning Health System, in which the development of a well-defined dataset is essential. This paper discusses the challenges in the design of a comprehensive dataset, focusing on variations in two electronic health record systems and divergent care processes.

Data exchange in oncological healthcare is hindered by insufficient standardization agreements. An Information Standard comprises agreements facilitating accurate communication of care information with the necessary quality and timeliness. We introduce a structured approach to designing, implementing, and maintaining semantic information standards for oncology, supporting information use across medical scenarios. It consists of an element dataset organized into three tiers, ensuring comprehensive documentation and reliable information exchange. These agreements enhance health data interoperability and system functionality, governed by semantic standardization. Together with communication standards, they empower healthcare professionals with extensive medical records and grant patients control over their health data. Consequently, a high-quality semantic information standard supports both providers and patients, and is adequate during development and manageable during maintenance.

Reuse of clinical data within the healthcare process and for secondary purposes is particularly valuable. This study emphasizes the crucial role of Standardized, Structured Reports (SSRs) in supporting continuity of care while also advancing reusability of data, decision support functionalities, and accommodating future developments. Integrating SSRs with existing information systems poses a serious challenge. The integration of SSRs with information standards enhances their utility in diverse applications. The significance of SSRs is further highlighted by their seamless integration into healthcare processes, and development and implementation is supported by various available applications. This research contributes to the evolution of medical informatics by emphasizing the importance of collaborative efforts in standardized, structured reporting, all aimed at enhancing patient care.

Genotype imputation is a standard approach used in the field of genetics. It can be used to fill in missing genotypes or to increase genotype density. Accurate imputed genotypes are required for downstream analyses. In this study, the accuracy of whole-genome sequence imputation for Angus beef cattle was examined using two different ways to form the reference panel, a within-breed reference population and a multi breed reference population. A stepwise imputation was conducted by imputing medium-density (50k) genotypes to high-density, and then to the whole genome sequence (WGS). The reference population consisted of animals with WGS information from the 1 000 Bull Genomes project. The within-breed reference panel comprised 396 Angus cattle, while an additional 2 380 Taurine cattle were added to the reference population for the multi breed reference scenario. Imputation accuracies were variant-wise average accuracies from a 10-fold cross-validation and expressed as concordance rates (CR) and Pearson's correlations (PR). The two imputation scenarios achieved moderate to high imputation accuracies ranging from 0.896 to 0.966 for CR and from 0.779 to 0.834 for PR. The accuracies from two different scenarios were similar, except for PR from WGS imputation, where the within-breed scenario outperformed the multi breed scenario. The result indicated that including a large number of animals from other breeds in the reference panel to impute purebred Angus did not improve the accuracy and may negatively impact the results. In conclusion, the imputed WGS in Angus cattle can be obtained with high accuracy using a within-breed reference panel., (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)

Australian beef cattle experience variable conditions, which may give rise to genotype-by-environment interactions depending on the genotypes' macro- and/or micro-genetic environmental sensitivity (GES). Macro-GES gives rise to genotype-by-environment interactions across definable and shared environments, while micro-GES causes heritable variation of phenotypes, e.g., the performance of progeny from one sire may be more variable than other sires. Yearling weight (YW) is a key trait in Australian Angus cattle that may be impacted by both macro- and micro-GES. Current models for genetic evaluation of YW attempt to account for macro-GES by fitting sire-by-herd interactions (S × H). Variation in micro-GES had not yet been estimated for YW in Australian Angus. The aim of this study was to estimate genetic variation due to macro- and micro-GES in YW of Australian Angus cattle. A reaction norm with contemporary group effects as the environmental covariate was fitted either as an alternative to or in combination with a random S × H effect to account for macro-GES. Double hierarchical generalised linear models (DHGLM), fitted as sire models, were used to estimate the genetic variance of the dispersion as a measure of micro-GES. Variation due to both macro- and micro-GES were found in YW. The variance of the slope of the reaction norm was 0.02-0.03 (SEs 0.00), while the S × H variance accounted for 7% of the phenotypic variance in all models. Results showed that both a random S × H effect and a reaction norm should be included to account for both macro-GES and the additional variation captured by an S × H effect. The heritability of the dispersion on the measurement scale ranged from 0.06 to 0.10 (SEs 0.00) depending on which model was used. It should therefore be possible to alter both macro- and micro-GES of YW in Australian Angus through selection. However, care should be taken to ensure an appropriate data structure when including sire-by-herd interactions in the mean part of a DHGLM; otherwise, it can cause biased estimates of micro-GES., (Copyright © 2023. Published by Elsevier B.V.)

Random regression (RR) models are recommended as an alternative to multiple-trait (MT) models for better capturing the variance-covariance structure over a trajectory and hence more accurate genetic evaluation of traits that are repeatedly measured and genetically change gradually over time. However, a limited number of studies have been done to empirically compare RR over a MT model to determine how much extra benefit could be achieved from one method over another. We compared the prediction accuracy of RR and MT models for growth traits of Australian meat sheep measured from 60 to 525 d, using 102,579 weight records from 24,872 animals. Variance components and estimated breeding values (EBVs) estimated at specific ages were compared and validated with forward prediction. The accuracy of EBVs obtained from the MT model was 0.58, 0.51, 0.54, and 0.56 for weaning, postweaning, yearling, and hogget weight stages, respectively. RR model produced accuracy estimates of 0.56, 0.51, 0.54, and 0.54 for equivalent weight stages. Regression of adjusted phenotype on EBVs was very similar between the MT and the RR models (P > 0.05). Although the RR model did not significantly increase the accuracy of predicting future progeny performance, there are other benefits of the model such as no limit to the number of records per animal, estimation of EBVs for early and late growth, no need for age correction. Therefore, RR can be considered a more flexible method for the genetic evaluation of Australian sheep for early and late growth, and no need for age correction., (© The Author(s) 2024. Published by Oxford University Press on behalf of the American Society of Animal Science.)

Genomic selection (GS) has become common in sheep breeding programmes in Australia, New Zealand, France and Ireland but requires validation in South Africa (SA). This study aimed to compare the predictive ability, bias and dispersion of pedigree BLUP (ABLUP) and single-step genomic BLUP (ssGBLUP) for production and reproduction traits in South African Merinos. Animals in this study originated from five research and five commercial Merino flocks and included between 54,072 and 79,100 production records for weaning weight (WW), yearling weight (YW), fibre diameter (FD), clean fleece weight (CFW) and staple length (SL). For reproduction traits, the dataset included 58,744 repeated records from 17,268 ewes for the number of lambs born (NLB), number of lambs weaned (NLW) and the total weight weaned (TWW). The single-step relationship matrix, H, was calculated using PreGS90 software combining 2811 animals with medium density (~50 K) genotypes and the pedigree of 88,600 animals. Assessment was based on single-trait analysis using ASREML V4.2 software. The accuracy of prediction was evaluated according to the 'LR-method' by a cross-validation design. Validation candidates were assigned according to Scenario I: born after a certain time point; and Scenario II: born in a particular flock. In Scenario I, the genotyping rate for the reference population between 2006 and the 2013 cut-off point approached 7% of animals with phenotypes and 20% of their sires. For reproduction traits, about 20% of ewes born between 2006 and 2011 cut-off were genotyped, along with 15% of their sires. Genotyping rates in the validation set of Scenario I were 3.7% (production) and 11.4% (reproduction) for candidates and 35% of their sires. Sires were allowed to have progeny in both the reference and validation set. In Scenario I, ssGBLUP increased the accuracy of prediction for all traits except NLB, ranging between +8% (0.62-0.67) for FD and +44% (0.36-0.52) for WW. This showed a promising gain in accuracy despite a modestly sized reference population. In the 'across flock validation' (Scenario II), overall accuracy was lower, but with greater differences between ABLUP and ssGBLUP ranging between +17% (0.12-0.14) for TWW and +117% (0.18-0.39) for WW. There was little indication of severe bias, but some traits were prone to over dispersion and the use of genomic information did not improve this. These results were the first to validate the benefit of genomic information in South African Merinos. However, because production traits are moderately heritable and easy to measure at an early age, future research should be aimed at best exploiting GS methods towards genetic prediction of sex-limited and/or lowly heritable traits such as NLW. GS methods should be combined with dedicated efforts to increase genetic links between sectors and improved phenotyping by commercial flocks., (© 2023 The Authors. Journal of Animal Breeding and Genetics published by John Wiley & Sons Ltd.)