Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles
Translating genome-wide association study (GWAS) loci into causal variants and genes
requires accurate cell-type-specific enhancer–gene maps from disease-relevant tissues …
requires accurate cell-type-specific enhancer–gene maps from disease-relevant tissues …
Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues
Genetic association mapping produces statistical links between phenotypes and genomic
regions, but identifying causal variants remains difficult. Whole-genome sequencing (WGS) …
regions, but identifying causal variants remains difficult. Whole-genome sequencing (WGS) …
Identifying causal variants and genes using functional genomics in specialized cell types and contexts
B Liu, SB Montgomery - Human genetics, 2020 - Springer
A central goal in human genetics is the identification of variants and genes that influence the
risk of polygenic diseases. In the past decade, genome-wide association studies (GWAS) …
risk of polygenic diseases. In the past decade, genome-wide association studies (GWAS) …
Genome-wide enhancer maps link risk variants to disease genes
Genome-wide association studies (GWAS) have identified thousands of noncoding loci that
are associated with human diseases and complex traits, each of which could reveal insights …
are associated with human diseases and complex traits, each of which could reveal insights …
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 …
HACER: an atlas of human active enhancers to interpret regulatory variants
Recent studies have shown that disease-susceptibility variants frequently lie in cell-type-
specific enhancer elements. To identify, interpret, and prioritize such risk variants, we must …
specific enhancer elements. To identify, interpret, and prioritize such risk variants, we must …
[HTML][HTML] Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
AN Barbeira, SP Dickinson, R Bonazzola… - Nature …, 2018 - nature.com
Scalable, integrative methods to understand mechanisms that link genetic variants with
phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan …
phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan …
Estimating the causal tissues for complex traits and diseases
How to interpret the biological causes underlying the predisposing markers identified
through genome-wide association studies (GWAS) remains an open question. One direct …
through genome-wide association studies (GWAS) remains an open question. One direct …
[PDF][PDF] Mapping causal variants with single-nucleotide resolution reveals biochemical drivers of phenotypic change
R She, DF Jarosz - Cell, 2018 - cell.com
Understanding the sequence determinants that give rise to diversity among individuals and
species is the central challenge of genetics. However, despite ever greater numbers of …
species is the central challenge of genetics. However, despite ever greater numbers of …
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 …