Interpreting non-coding disease-associated human variants using single-cell epigenomics
Genome-wide association studies (GWAS) have linked hundreds of thousands of sequence
variants in the human genome to common traits and diseases. However, translating this …
variants in the human genome to common traits and diseases. However, translating this …
CSEA-DB: an omnibus for human complex trait and cell type associations
During the past decade, genome-wide association studies (GWAS) have identified many
genetic variants with susceptibility to several thousands of complex diseases or traits. The …
genetic variants with susceptibility to several thousands of complex diseases or traits. The …
Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics
Genome-wide association studies (GWAS) provide a powerful means to identify 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 …
Epigenome-wide association studies and the interpretation of disease-omics
Epigenome-wide association studies represent one means of applying genome-wide
assays to identify molecular events that could be associated with human phenotypes. The …
assays to identify molecular events that could be associated with human phenotypes. The …
Intergenic disease-associated regions are abundant in novel transcripts
Background Genotyping of large populations through genome-wide association studies
(GWAS) has successfully identified many genomic variants associated with traits or disease …
(GWAS) has successfully identified many genomic variants associated with traits or disease …
scGWAS: landscape of trait-cell type associations by integrating single-cell transcriptomics-wide and genome-wide association studies
Background The rapid accumulation of single-cell RNA sequencing (scRNA-seq) data
presents unique opportunities to decode the genetically mediated cell-type specificity in …
presents unique opportunities to decode the genetically mediated cell-type specificity in …
SURGE: uncovering context-specific genetic-regulation of gene expression from single-cell RNA sequencing using latent-factor models
Genetic regulation of gene expression is a complex process, with genetic effects known to
vary across cellular contexts such as cell types and environmental conditions. We …
vary across cellular contexts such as cell types and environmental conditions. We …
Genetic and epigenetic contribution to complex traits
H Kilpinen, ET Dermitzakis - Human molecular genetics, 2012 - academic.oup.com
Much of the recent advances in functional genomics owe to developments in next-
generation sequencing technology, which has contributed to the exponential increase of …
generation sequencing technology, which has contributed to the exponential increase of …
An analytical framework for decoding cell type-specific genetic variation of gene regulation
A deeper understanding of genetic regulation and functional mechanisms underlying
genetic associations with complex traits and diseases is impeded by cellular heterogeneity …
genetic associations with complex traits and diseases is impeded by cellular heterogeneity …
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases
Clinical measurements can be viewed as useful intermediate phenotypes to promote
understanding of complex human diseases. To acquire comprehensive insights into the …
understanding of complex human diseases. To acquire comprehensive insights into the …