The Proprotein Convertase Furin as a Novel Aneurysm Predisposition Gene Impairing TGF-β Signalling

Medicine, Cardiovascular System, Life Sciences, Genetics,
aortic aneurysm   Furin   TGF-β signalling   proprotein convertase   genetic predisposition  

Academic Background Aortic aneurysm (AA) is a condition characterized by abnormal dilation of the aorta, commonly occurring in the abdominal and thoracic aorta. Aortic aneurysms are more prevalent in individuals over the age of 65, and if not diagnosed and treated promptly, they can lead to fatal ruptures. Although age, smoking, hypertension, and m...

Significance in Scale Space for Hi-C Data Analysis

Information Science, Computer Science, Life Sciences, Bioengineering, Genetics,
Hi-C data   scale space   gene regulation   chromatin loops   cell-type-specific  

In the field of genomics, understanding the spatial organization of the genome is crucial for uncovering gene regulatory mechanisms. Hi-C technology, as a genome-wide chromosome conformation capture technique, can reveal the three-dimensional structure of the genome, particularly the key role of chromatin loops in gene regulation. However, existing...

Multi-Modal Interpretable Representation for Non-Coding RNA Classification and Class Annotation

Life Sciences, Bioengineering, Genetics,
non-coding RNA   multi-modal learning   deep learning   classification   annotation   bioinformatics   interpretability  

Non-coding RNAs (ncRNAs) play critical roles in cellular processes and disease development. Although genome sequencing projects have revealed a vast number of non-coding genes, the functional classification of ncRNAs remains a complex and challenging issue. The diversity, complexity, and functionality of ncRNAs make them important subjects in biome...

Privacy-Preserving Framework for Genomic Computations via Multi-Key Homomorphic Encryption

Information Science, Computer Science, Life Sciences, Bioengineering, Genetics,
genome analysis   privacy preservation   homomorphic encryption   multi-key encryption   genomic data security  

Privacy-Preserving Framework for Genomic Analysis: A Study Based on Multi-Key Homomorphic Encryption Academic Background With the reduction in the cost of genome sequencing, the widespread availability of genomic data has opened up new possibilities for personalized medicine (also known as genomic medicine). However, genomic data contains a vast am...

Sequence Analysis: DNA Sequence Alignment Using Transformer Models

Information Science, Artificial Intelligence, Life Sciences, Bioengineering, Genetics,
DNA sequence alignment   Transformer models   Genomic analysis   Deep learning   Bioinformatics  

Academic Background DNA sequence alignment is a core task in genomics, aiming to map short DNA fragments (reads) to the most probable locations on a reference genome. Traditional methods typically involve two steps: first, indexing the genome, followed by efficient searching to locate potential positions for the reads. However, with the exponential...

SCICONE: Single-Cell Copy Number Calling and Event History Reconstruction

Information Science, Computer Science, Medicine, Oncology, Life Sciences, Cell Biology, Bioengineering, Genetics,
single-cell sequencing   copy number variation   tumor evolution   SCICONE model   low-depth sequencing  

During tumor development, copy number alterations (CNAs) are key drivers of tumor heterogeneity and evolution. Understanding these variations is crucial for developing personalized cancer diagnostics and therapies. Single-cell sequencing technology offers the highest resolution for copy number analysis, down to the individual cell level. However, l...