Advances in genome sequencing have led to a tremendous increase in the discovery of novel missense variants, but evidence for determining clinical significance can be limited or conflicting. Here, we present Learning from Evidence to Assess Pathogeni...
Artificial neural network is an efficient and accurate fitting method. It has the function of self-learning, which is particularly important for prediction, and it could take advantage of the computer's high-speed computing capabilities and find the ...
BACKGROUND: Transforming large amounts of genomic data into valuable knowledge for predicting complex traits has been an important challenge for animal and plant breeders. Prediction of complex traits has not escaped the current excitement on machine...
BACKGROUND: Behçet's disease (BD) is a chronic multi-systemic vasculitis with a considerable prevalence in Asian countries. There are many genes associated with a higher risk of developing BD, one of which is endoplasmic reticulum aminopeptidase-1 (E...
Coronary artery disease (CAD) is the leading global cause of mortality and has substantial heritability with a polygenic architecture. Recent approaches of risk prediction were based on polygenic risk scores (PRS) not taking possible nonlinear effect...
One of the most important tasks in genome-wide association analysis (GWAS) is the detection of single-nucleotide polymorphisms (SNPs) which are related to target traits. With the development of sequencing technology, traditional statistical methods a...
Detecting epistatic interaction is a typical way of identifying the genetic susceptibility of complex diseases. Multifactor dimensionality reduction (MDR) is a decent solution for epistasis detection. Existing MDR-based methods still suffer from high...
OBJECTIVE: Epistasis identification is critical for determining susceptibility to human genetic diseases. The rapid development of technology has enabled scalability to make multifactor dimensionality reduction (MDR) measurements an effective calcula...
BACKGROUND: Recent studies have shown that long non-coding RNAs (lncRNAs) play a crucial role in the induction of cancer through epigenetic regulation, transcriptional regulation, post-transcriptional regulation and other aspects, thus participating ...
BACKGROUND: Glioblastoma (GBM) is a highly aggressive primary brain tumor. Currently, the suggested line of action is the surgical resection followed by radiotherapy and treatment with the adjuvant temozolomide, a DNA alkylating agent. However, the a...