Molecular quantitative trait loci
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …
genetics, as much of disease-associated variation is located in non-coding regions with …
Methods and insights from single-cell expression quantitative trait loci
Recent advancements in single-cell technologies have enabled expression quantitative trait
locus (eQTL) analysis across many individuals at single-cell resolution. Compared with bulk …
locus (eQTL) analysis across many individuals at single-cell resolution. Compared with bulk …
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 …
[PDF][PDF] Epigenomic dissection of Alzheimer's disease pinpoints causal variants and reveals epigenome erosion
Recent work has identified dozens of non-coding loci for Alzheimer's disease (AD) risk, but
their mechanisms and AD transcriptional regulatory circuitry are poorly understood. Here …
their mechanisms and AD transcriptional regulatory circuitry are poorly understood. Here …
Limited overlap of eQTLs and GWAS hits due to systematic differences in discovery
Most signals in genome-wide association studies (GWAS) of complex traits point to
noncoding genetic variants with putative gene regulatory effects. However, currently …
noncoding genetic variants with putative gene regulatory effects. However, currently …
[PDF][PDF] Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer
Many regions in the human genome vary in length among individuals due to variable
numbers of tandem repeats (VNTRs). To assess the phenotypic impact of VNTRs genome …
numbers of tandem repeats (VNTRs). To assess the phenotypic impact of VNTRs genome …
[HTML][HTML] CRISPR screens identify gene targets at breast cancer risk loci
Background Genome-wide association studies (GWAS) have identified> 200 loci associated
with breast cancer risk. The majority of candidate causal variants are in non-coding regions …
with breast cancer risk. The majority of candidate causal variants are in non-coding regions …
[HTML][HTML] Multitissue H3K27ac profiling of GTEx samples links epigenomic variation to disease
Genetic variants associated with complex traits are primarily noncoding, and their effects on
gene-regulatory activity remain largely uncharacterized. To address this, we profile …
gene-regulatory activity remain largely uncharacterized. To address this, we profile …
Single-cell genomics meets human genetics
Single-cell genomic technologies are revealing the cellular composition, identities and
states in tissues at unprecedented resolution. They have now scaled to the point that it is …
states in tissues at unprecedented resolution. They have now scaled to the point that it is …
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 …