Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
Oct 25, 2021
BACKGROUND: Disparities in the stage at diagnosis for breast cancer have been independently associated with various contextual characteristics. Understanding which combinations of these characteristics indicate highest risk, and where they are locate...
Similar diseases are usually caused by molecular origins or similar phenotypes. Confirming the relationship between diseases can help researchers gain a deep insight of the pathogenic mechanisms of emerging complex diseases, and improve the correspon...
BACKGROUND: Determining the status of molecular pathways and key mutations in colorectal cancer is crucial for optimal therapeutic decision making. We therefore aimed to develop a novel deep learning pipeline to predict the status of key molecular pa...
Neuropathology and applied neurobiology
Oct 18, 2021
AIMS: Although morphological attributes of cells and their substructures are recognised readouts of physiological or pathophysiological states, these have been relatively understudied in amyotrophic lateral sclerosis (ALS) research.
BACKGROUND: Identifying human protein-phenotype relationships has attracted researchers in bioinformatics and biomedical natural language processing due to its importance in uncovering rare and complex diseases. Since experimental validation of prote...
BACKGROUND: Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds p...
International journal of molecular sciences
Oct 12, 2021
Psoriasis (Pso) is a chronic inflammatory skin disease, and up to 30% of Pso patients develop psoriatic arthritis (PsA), which can lead to irreversible joint damage. Early detection of PsA in Pso patients is crucial for timely treatment but difficult...
Discriminating between deleterious and neutral mutations among numerous non-synonymous single nucleotide variants (nsSNVs) that may be observed through whole exome sequencing (WES) is considered a great challenge. In this regard, many machine learnin...
Gaucher disease (GD) is a rare lysosomal storage disorder that is divided into three subtypes based on presentation of neurological manifestations. Distinguishing between the types has important implications for treatment and counseling. Yet, patient...
BACKGROUND: Identifying interaction effects between genes is one of the main tasks of genome-wide association studies aiming to shed light on the biological mechanisms underlying complex diseases. Multifactor dimensionality reduction (MDR) is a popul...
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