Structural variants (SVs) are a major driver of genetic diversity and disease in the human genome and their discovery is imperative to advances in precision medicine. Existing SV callers rely on hand-engineered features and heuristics to model SVs, w...
International journal of molecular sciences
Feb 25, 2023
Recent deep learning algorithms have further improved risk classification capabilities. However, an appropriate feature selection method is required to overcome dimensionality issues in population-based genetic studies. In this Korean case-control st...
Genetic architecture of plasma lipidome provides insights into regulation of lipid metabolism and related diseases. We applied an unsupervised machine learning method, PGMRA, to discover phenotype-genotype many-to-many relations between genotype and ...
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie
Feb 21, 2023
Aneuploidy is the loss or gain of one or more chromosomes. Although it is a rare phenomenon in liveborn individuals, it is observed in livestock breeding populations. These breeding populations are often routinely genotyped and the genotype intensity...
Pathobiology : journal of immunopathology, molecular and cellular biology
Feb 15, 2023
The expanding digitalization of routine diagnostic histological slides holds a potential to apply artificial intelligence (AI) to pathology, including bone marrow (BM) histology. In this perspective, we describe potential tasks in diagnostics that ca...
Analysis of population structure and genomic ancestry remains an important topic in human genetics and bioinformatics. Commonly used methods require high-quality genotype data to ensure accurate inference. However, in practice, laboratory artifacts a...
International journal of molecular sciences
Feb 8, 2023
Current research on the angiotensin-converting-enzyme () gene has yielded controversial results on whether different polymorphisms are linked with human longevity. polymorphisms are a risk factor for Alzheimer's disease and age-onset diseases that ...
This study evaluated the performance of the Vitek 2 Advanced Expert System (AES) confidence level report as a rapid tool for reporting antimicrobial susceptibility testing (AST) results for a challenging set of isolates from North and Latin America....
Existing warfarin dose prediction algorithms based on pharmacogenetics and clinical parameters have not been used clinically due to the absence of external validation, lack of assessment for clinical utility, and high risk of bias. Moreover, given th...
Indian journal of medical microbiology
Jan 4, 2023
BACKGROUND: Infectious diseases pose many challenges due to increasing threat of antimicrobial resistance, which necessitates continuous research to develop novel strategies for development of new molecules with antibacterial activity. In the era of ...