In the field of treatment and prevention of immune-related bone diseases, significant challenges persist, necessitating the urgent exploration of new and effective treatment methods. However, most existing Mendelian randomization (MR) studies are con...
Deep learning models have shown great promise in predicting regulatory effects from DNA sequence, but their informativeness for human complex diseases is not fully understood. Here, we evaluate genome-wide SNP annotations from two previous deep learn...
Assessing the causal tissues of human complex diseases is important for the prioritization of trait-associated genetic variants. Yet, the biological underpinnings of trait-associated variants are extremely difficult to infer due to statistical noise ...
Conventional human leukocyte antigen (HLA) imputation methods drop their performance for infrequent alleles, which is one of the factors that reduce the reliability of trans-ethnic major histocompatibility complex (MHC) fine-mapping due to inter-ethn...
Over the last decade, genome-wide association studies (GWAS) have discovered thousands of genetic variants underlying complex human diseases and agriculturally important traits. These findings have been utilized to dissect the biological basis of dis...
Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. Although genome-wide association studies (GWAS) identify the risk ADHD-associated variants and genes with significant P-values, they may neglect the combined eff...
MOTIVATION: Understanding the functional consequence of genetic variants, especially the non-coding ones, is important but particularly challenging. Genome-wide association studies (GWAS) or quantitative trait locus analyses may be subject to limited...
The imputation of unmeasured genotypes is essential in human genetic research, particularly in enhancing the power of genome-wide association studies and conducting subsequent fine-mapping. Recently, several deep learning-based genotype imputation me...
Taihang is an indigenous breed in Hebei Province and has a long history of evolution. To uncover the genetic basis and protect the genetic resources, it is important to develop accurate markers to identify Taihang at the molecular level. In this stud...
International journal of molecular sciences
40076709
Complex diseases pose challenges in prediction due to their multifactorial and polygenic nature. This study employed machine learning (ML) to analyze genomic data from the UK Biobank, aiming to predict the genomic predisposition to complex diseases l...