The genomic best linear unbiased prediction (GBLUP) model has proven to be useful for prediction of complex traits as well as estimation of population genetic parameters. Improved inference and prediction accuracy of GBLUP may be achieved by identify...
BACKGROUND: The human phenome has been widely used with a variety of genomic data sources in the inference of disease genes. However, most existing methods thus far derive phenotype similarity based on the analysis of biomedical databases by using th...
A central challenge in human genomics is to understand the cellular, evolutionary, and clinical significance of genetic variants. Here, we introduce a unified population-genetic and machine-learning model, called inear llele-pecific election nferenc ...
BACKGROUND: Approximately 1 in 33 newborns is affected by congenital anomalies worldwide. We aimed to develop a practical model for identifying infants with a high risk of congenital cataracts (CCs), which is the leading cause of avoidable childhood ...
BACKGROUND: Shape is a critical element of the visual appeal of strawberry fruit and is influenced by both genetic and non-genetic determinants. Current fruit phenotyping approaches for external characteristics in strawberry often rely on the human e...
We investigated the narrow-sense heritability of MRI-visible dilated perivascular spaces (dPVS) in healthy young adult twins and nontwin siblings (138 monozygotic, 79 dizygotic twin pairs, and 133 nontwin sibling pairs; 28.7 ± 3.6 years) from the Hum...
Methods in molecular biology (Clifton, N.J.)
33733356
In biology, the term "epistasis" indicates the effect of the interaction of a gene with another gene. A gene can interact with an independently sorted gene, located far away on the chromosome or on an entirely different chromosome, and this interacti...
Cupping of the optic nerve head, a highly heritable trait, is a hallmark of glaucomatous optic neuropathy. Two key parameters are vertical cup-to-disc ratio (VCDR) and vertical disc diameter (VDD). However, manual assessment often suffers from poor a...
Artificial intelligence recommendations are sometimes erroneous and biased. In our research, we hypothesized that people who perform a (simulated) medical diagnostic task assisted by a biased AI system will reproduce the model's bias in their own dec...
DNA methylation (DNAm) is essential for brain development and function and potentially mediates the effects of genetic risk variants underlying brain disorders. We present INTERACT, a transformer-based deep learning model to predict regulatory varian...