The convergence of artificial intelligence (AI) and precision medicine promises to revolutionize health care. Precision medicine methods identify phenotypes of patients with less-common responses to treatment or unique healthcare needs. AI leverages ...
Polygenic risk scores (PRS) estimate the genetic risk of an individual for a complex disease based on many genetic variants across the whole genome. In this study, we compared a series of computational models for estimation of breast cancer PRS. A de...
Virchows Archiv : an international journal of pathology
Sep 26, 2020
In patients with suspected lymphoma, the tissue biopsy provides lymphoma confirmation, classification, and prognostic factors, including genetic changes. We developed a deep learning algorithm to detect MYC rearrangement in scanned histological slide...
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...
Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), increase type 2 diabetes ris...
OBJECTIVES: Juvenile idiopathic arthritis (JIA) is an autoimmune disease and a common cause of chronic disability in children. Diagnosis of JIA is based purely on clinical symptoms, which can be variable, leading to diagnosis and treatment delays. De...
The British journal of oral & maxillofacial surgery
Aug 28, 2020
Vitamin D (VD) levels and several variants in the vitamin D receptor (VDR) gene are associated with the occurrence of diseases of the bones and cartilage. The aim of this research was to study and compare the association of the BsmI variant in the VD...
BACKGROUND: and are pivotal genes driving increased risk for age-related macular degeneration (AMD) among several populations. Here, we performed a hospital-based case-control study to evaluate the effects of three single nucleotide polymorphisms (...
Circular RNAs (circRNA) are a special kind of covalently closed single-stranded RNA molecules. They have been shown to control and coordinate various biological processes. Recent researches show that circRNAs are closely associated with numerous chro...
Recent large-scale genome-wide association studies have identified common genetic variations that may contribute to the risk of amyotrophic lateral sclerosis (ALS). However, pinpointing the risk variants in noncoding regions and underlying biological...
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