A road map for understanding molecular and genetic determinants of osteoporosis
Osteoporosis is a highly prevalent disorder characterized by low bone mineral density and
an increased risk of fracture, termed osteoporotic fracture. Notably, bone mineral density …
an increased risk of fracture, termed osteoporotic fracture. Notably, bone mineral density …
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases
AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …
created a critical need to experimentally validate the disease-associated variants, 90% of …
LDBlockShow: a fast and convenient tool for visualizing linkage disequilibrium and haplotype blocks based on variant call format files
The triangular correlation heatmap aiming to visualize the linkage disequilibrium (LD)
pattern and haplotype block structure of SNPs is ubiquitous component of population-based …
pattern and haplotype block structure of SNPs is ubiquitous component of population-based …
Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation
Genome-wide association studies (GWAS) have uncovered thousands of genetic variants
that influence risk for human diseases and traits. Yet understanding the mechanisms by …
that influence risk for human diseases and traits. Yet understanding the mechanisms by …
Crosstalk of genetic variants, allele-specific DNA methylation, and environmental factors for complex disease risk
Over the past decades, genome-wide association studies (GWAS) have identified thousands
of phenotype-associated DNA sequence variants for potential explanations of inter …
of phenotype-associated DNA sequence variants for potential explanations of inter …
Long noncoding RNAs: a missing link in osteoporosis
AM Silva, SR Moura, JH Teixeira, MA Barbosa… - Bone research, 2019 - nature.com
Osteoporosis is a systemic disease that results in loss of bone density and increased
fracture risk, particularly in the vertebrae and the hip. This condition and associated …
fracture risk, particularly in the vertebrae and the hip. This condition and associated …
Risk SNP-Mediated Enhancer–Promoter Interaction Drives Colorectal Cancer through Both FADS2 and AP002754.2
J Tian, J Lou, Y Cai, M Rao, Z Lu, Y Zhu, D Zou, X Peng… - Cancer research, 2020 - AACR
Although genome-wide association studies (GWAS) have identified more than 100
colorectal cancer risk loci, most of the biological mechanisms associated with these loci …
colorectal cancer risk loci, most of the biological mechanisms associated with these loci …
METTL3‐stabilized super enhancers‐lncRNA SUCLG2‐AS1 mediates the formation of a long‐range chromatin loop between enhancers and promoters of SOX2 in …
X Hu, J Wu, Y Feng, H Ma, E Zhang… - Clinical and …, 2023 - Wiley Online Library
Background Super enhancers (SE) play pivotal roles in cell identity and diseases occur
including tumorigenesis. The depletion of SE‐associated lncRNA transcripts, also known as …
including tumorigenesis. The depletion of SE‐associated lncRNA transcripts, also known as …
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes
YY Duan, XF Chen, RJ Zhu, YY Jia, XT Huang… - The American Journal of …, 2023 - cell.com
Most of the single-nucleotide polymorphisms (SNPs) associated with insulin resistance (IR)-
relevant phenotypes by genome-wide association studies (GWASs) are located in …
relevant phenotypes by genome-wide association studies (GWASs) are located in …
Significance of single-nucleotide variants in long intergenic non-protein coding RNAs
H Zou, LX Wu, L Tan, FF Shang… - Frontiers in Cell and …, 2020 - frontiersin.org
Single-nucleotide variants (SNVs) are the most common genetic variants and universally
present in the human genome. Genome-wide association studies (GWASs) have identified a …
present in the human genome. Genome-wide association studies (GWASs) have identified a …