AIMC Topic: Genetic Predisposition to Disease

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Genetic Control of tRNA-Derived Fragments Contributes to Cancer Risk.

Cancer research
UNLABELLED: tRNA-derived fragments (tRF) are a class of small noncoding RNAs that have exhibited several functions in cancer. Recent studies have shown that mutations in tRNA genes can lead to global changes in tRF expression levels and may affect tR...

Genetic and molecular underpinnings of the link between rheumatoid arthritis and myasthenia gravis: Insights from GWAS and transcriptomic analyses.

Clinical rheumatology
BACKGROUND: Although studies have shown that patients with rheumatoid arthritis (RA) are at a higher risk of developing myasthenia gravis (MG), the causal relationship and shared genetic basis between these two diseases have not been fully investigat...

Developing a Panel of Shared Susceptibility Genes as Diagnostic Biomarkers for chronic obstructive pulmonary disease and Heart Failure.

Computers in biology and medicine
AIM: Chronic obstructive pulmonary disease (COPD) and heart failure (HF) are closely intertwined comorbidities that present significant clinical challenges due to the poorly understood pathophysiological mechanisms driving their coexistence. In this ...

Type 2 Diabetes Subtyping via Phenotype and Genotype Co-Learning.

Studies in health technology and informatics
Interpreting and subtyping type 2 diabetes (T2D) is challenging yet essential for achieving fine-grained pathophysiological insights and precise clinical stratification. Previous studies have primarily relied on a small number of pre-selected risk fa...

Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.

Annals of the rheumatic diseases
OBJECTIVES: Systemic sclerosis (SSc) is a complex autoimmune disease with both known and unidentified genetic contributors. While genome-wide association studies (GWAS) have implicated multiple loci, many reside in noncoding regions. We aimed to iden...

Genetic Risk Scores in Stroke Research and Care.

Stroke
Stroke remains a leading cause of death and disability worldwide. While well-established risk factors play a major role, genetic predisposition is a crucial determinant of stroke susceptibility, with heritability estimates up to 39% for ischemic stro...

Deep Learning Reveals Liver MRI Features Associated With PNPLA3 I148M in Steatotic Liver Disease.

Liver international : official journal of the International Association for the Study of the Liver
BACKGROUND: Steatotic liver disease (SLD) is the most common liver disease worldwide, affecting 30% of the global population. It is strongly associated with the interplay of genetic and lifestyle-related risk factors. The genetic variant accounting f...

A novel Harris Hawks Optimization-based clustering method for elucidating genetic associations in osteoarthritis and Diverse Cancer Types.

Computers in biology and medicine
Considering the high incidence of osteoarthritis (OA), especially of the knee and hip, this study explores the possible genetic associations between OA and cancer types, including cancers of the bladder, kidney, breast, and prostate. The objective of...

From classical approaches to artificial intelligence, old and new tools for PDAC risk stratification and prediction.

Seminars in cancer biology
Pancreatic ductal adenocarcinoma (PDAC) is recognized as one of the most lethal malignancies, characterized by late-stage diagnosis and limited therapeutic options. Risk stratification has traditionally been performed using epidemiological studies an...

Identification and prioritization of disease candidate genes using biomedical named entity recognition and random forest classification.

Computers in biology and medicine
BACKGROUND AND OBJECTIVE: The elucidation of candidate genes is fundamental to comprehending intricate diseases, vital for early diagnosis, personalized treatment, and drug discovery. Traditional Disease Gene Identification methods encounter limitati...