Long non-coding RNAs: definitions, functions, challenges and recommendations
Genes specifying long non-coding RNAs (lncRNAs) occupy a large fraction of the genomes
of complex organisms. The term 'lncRNAs' encompasses RNA polymerase I (Pol I), Pol II …
of complex organisms. The term 'lncRNAs' encompasses RNA polymerase I (Pol I), Pol II …
Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
Hyenadna: Long-range genomic sequence modeling at single nucleotide resolution
Genomic (DNA) sequences encode an enormous amount of information for gene regulation
and protein synthesis. Similar to natural language models, researchers have proposed …
and protein synthesis. Similar to natural language models, researchers have proposed …
Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …
contributing to disease, but in many cases, the related cell types/states through which genes …
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention
Although physical activity and sedentary behavior are moderately heritable, little is known
about the mechanisms that influence these traits. Combining data for up to 703,901 …
about the mechanisms that influence these traits. Combining data for up to 703,901 …
[PDF][PDF] A single-cell atlas of chromatin accessibility in the human genome
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …
Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease
More than 800 million people suffer from kidney disease, yet the mechanism of kidney
dysfunction is poorly understood. In the present study, we define the genetic association with …
dysfunction is poorly understood. In the present study, we define the genetic association with …
Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …
Systematic differences in discovery of genetic effects on gene expression and complex traits
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits
M Oliva, K Demanelis, Y Lu, M Chernoff, F Jasmine… - Nature …, 2023 - nature.com
Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-
specific characterization of DNAm is needed to understand its role in gene regulation and its …
specific characterization of DNAm is needed to understand its role in gene regulation and its …