Repetitive DNA sequence detection and its role in the human genome
Repetitive DNA sequences playing critical roles in driving evolution, inducing variation, and
regulating gene expression. In this review, we summarized the definition, arrangement, and …
regulating gene expression. In this review, we summarized the definition, arrangement, and …
The role of structural variations in Alzheimer's disease and other neurodegenerative diseases
Dozens of single nucleotide polymorphisms (SNPs) related to Alzheimer's disease (AD)
have been discovered by large scale genome-wide association studies (GWASs). However …
have been discovered by large scale genome-wide association studies (GWASs). However …
Mobile element variation contributes to population-specific genome diversification, gene regulation and disease risk
S Kojima, S Koyama, M Ka, Y Saito, EH Parrish… - Nature …, 2023 - nature.com
Mobile genetic elements (MEs) are heritable mutagens that recursively generate structural
variants (SVs). ME variants (MEVs) are difficult to genotype and integrate in statistical …
variants (SVs). ME variants (MEVs) are difficult to genotype and integrate in statistical …
A comparative atlas of single-cell chromatin accessibility in the human brain
Recent advances in single-cell transcriptomics have illuminated the diverse neuronal and
glial cell types within the human brain. However, the regulatory programs governing cell …
glial cell types within the human brain. However, the regulatory programs governing cell …
A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis
The hominid-specific retrotransposon SINE-VNTR-Alu (SVA) is a composite element that
has contributed to the genetic variation between individuals and influenced genomic …
has contributed to the genetic variation between individuals and influenced genomic …
Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease
SVA (SINE (short interspersed nuclear element)–VNTR (variable number of tandem repeats)–
Alu) retrotransposons remain active in humans and contribute to individual genetic variation …
Alu) retrotransposons remain active in humans and contribute to individual genetic variation …
[HTML][HTML] Making sense of complexity: Advances in bioinformatics for plant biology
K Emelianova, DM Riaño‐Pachón… - Applications in Plant …, 2023 - ncbi.nlm.nih.gov
Coined by Dutch theoretical biologists in the 1970s, the term bioinformatics originally
denoted a broad concept relating to the study of information processing in biological …
denoted a broad concept relating to the study of information processing in biological …
Localized assembly for long reads enables genome-wide analysis of repetitive regions at single-base resolution in human genomes
K Ikemoto, H Fujimoto, A Fujimoto - Human Genomics, 2023 - Springer
Background Long-read sequencing technologies have the potential to overcome the
limitations of short reads and provide a comprehensive picture of the human genome …
limitations of short reads and provide a comprehensive picture of the human genome …
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation
Structural variants (SVs) drive gene expression in the human brain and are causative of
many neurological conditions. However, most existing genetic studies have been based on …
many neurological conditions. However, most existing genetic studies have been based on …
Mitochondria‐Related Genome‐Wide Mendelian Randomization Identifies Putatively Causal Genes for Neurodegenerative Diseases
Z Wang, Y Sun, Z Bai, M Li, D Kong… - Movement Disorders, 2025 - Wiley Online Library
Background Mitochondrial dysfunction is increasingly recognized as a key factor in
neurodegenerative diseases (NDDs), underscoring the therapeutic potential of targeting …
neurodegenerative diseases (NDDs), underscoring the therapeutic potential of targeting …