INTRODUCTION: Rheumatoid arthritis (RA) is a long-term autoimmune disorder that primarily affects joints. Although RA is chiefly associated with HLA class II, nevertheless some HLA class I associations have also been observed. These molecules present...
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
39630807
This genetic association study including 120 patients with type 2 diabetes mellitus (T2DM) and 166 non-diabetic individuals aimed to investigate the association of polymorphisms in the genes GSTM1 and GSTT1 (gene deletion), GSTP1 (rs1695), ACE (rs464...
International journal of chronic obstructive pulmonary disease
39525518
BACKGROUND AND PURPOSE: Chronic obstructive pulmonary disease (COPD) is a common and progressive disease that is influenced by both genetic and environmental factors, and genetic factors are important determinants of COPD. This study focuses on scree...
BACKGROUND: Predicting phenotypes from genetic variation is foundational for fields as diverse as bioengineering and global change biology, highlighting the importance of efficient methods to predict gene functions. Linking genetic changes to phenoty...
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
39187417
Apert (AS), Crouzon (CS), Muenke (MS), Pfeiffer (PS), and Saethre Chotzen (SCS) are among the most frequently diagnosed syndromic craniosynostoses. The aims of this study were (1) to train an innovative model using artificial intelligence (AI)-based ...
Understanding the genetic basis of phenotypic variation is fundamental to biology. Here we introduce GAP, a novel machine learning framework for predicting binary phenotypes from gaps in multi-species sequence alignments. GAP employs a neural network...
How complex phenotypes emerge from intricate gene expression patterns is a fundamental question in biology. Integrating high-content genotyping approaches such as single-cell RNA sequencing and advanced learning methods such as language models offers...
Brain imaging genetics aims to explore the association between genetic factors such as single nucleotide polymorphisms (SNPs) and brain imaging quantitative traits (QTs). However, most existing methods do not consider the nonlinear correlations betwe...
Journal of thrombosis and haemostasis : JTH
39798926
Artificial intelligence (AI) is rapidly advancing our ability to identify and interpret genetic variants associated with coagulation factor deficiencies. This review introduces AI, with a specific focus on machine learning (ML) methods, and examines ...
The case-control study is a widely used method for investigating the genetic underpinnings of binary traits. However, long-term, prospective cohort studies often grapple with absent or evolving health-related outcomes. Here, we propose two methods, l...