Regulatory SNPs: altered transcription factor binding sites implicated in complex traits and diseases
AO Degtyareva, EV Antontseva… - International journal of …, 2021 - mdpi.com
The vast majority of the genetic variants (mainly SNPs) associated with various human traits
and diseases map to a noncoding part of the genome and are enriched in its regulatory …
and diseases map to a noncoding part of the genome and are enriched in its regulatory …
Exploration of tools for the interpretation of human non-coding variants
The advent of Whole Genome Sequencing (WGS) broadened the genetic variation detection
range, revealing the presence of variants even in non-coding regions of the genome, which …
range, revealing the presence of variants even in non-coding regions of the genome, which …
Designing optimal convolutional neural network architecture using differential evolution algorithm
Convolutional neural networks (CNNs) are deep learning models used widely for solving
various tasks like computer vision and speech recognition. CNNs are developed manually …
various tasks like computer vision and speech recognition. CNNs are developed manually …
DeepFun: a deep learning sequence-based model to decipher non-coding variant effect in a tissue-and cell type-specific manner
More than 90% of the genetic variants identified from genome-wide association studies
(GWAS) are located in non-coding regions of the human genome. Here, we present a user …
(GWAS) are located in non-coding regions of the human genome. Here, we present a user …
deCS: A Tool for Systematic Cell Type Annotations of Single-Cell RNA Sequencing Data Among Human Tissues
Single-cell RNA sequencing (scRNA-seq) is revolutionizing the study of complex and
dynamic cellular mechanisms. However, cell type annotation remains a main challenge as it …
dynamic cellular mechanisms. However, cell type annotation remains a main challenge as it …
Deep learning approaches for noncoding variant prioritization in neurodegenerative diseases
Determining how noncoding genetic variants contribute to neurodegenerative dementias is
fundamental to understanding disease pathogenesis, improving patient prognostication, and …
fundamental to understanding disease pathogenesis, improving patient prognostication, and …
Disentangling accelerated cognitive decline from the normal aging process and unraveling its genetic components: A neuroimaging-based deep learning approach
Background: The progressive cognitive decline, an integral component of Alzheimer's
disease (AD), unfolds in tandem with the natural aging process. Neuroimaging features …
disease (AD), unfolds in tandem with the natural aging process. Neuroimaging features …
Natural and experimental rewiring of gene regulatory regions
The successful development and ongoing functioning of complex organisms depend on the
faithful execution of the genetic code. A critical step in this process is the correct spatial and …
faithful execution of the genetic code. A critical step in this process is the correct spatial and …
Comparative analysis of models in predicting the effects of SNPs on TF-DNA binding using large-scale in vitro and in vivo data
D Han, Y Li, L Wang, X Liang, Y Miao… - Briefings in …, 2024 - academic.oup.com
Non-coding variants associated with complex traits can alter the motifs of transcription factor
(TF)–deoxyribonucleic acid binding. Although many computational models have been …
(TF)–deoxyribonucleic acid binding. Although many computational models have been …
[HTML][HTML] From GWASs toward Mechanistic Understanding with Case Studies in Dermatogenetics
S Shen, MK Sobczyk, L Paternoster… - Journal of Investigative …, 2024 - Elsevier
Many human skin diseases result from the complex interplay of genetic and environmental
mechanisms that are largely unknown. GWASs have yielded insight into the genetic aspect …
mechanisms that are largely unknown. GWASs have yielded insight into the genetic aspect …