Single-cell eQTL analysis of activated T cell subsets reveals activation and cell type–dependent effects of disease-risk variants
The impact of genetic variants on cells challenged in biologically relevant contexts has not
been fully explored. Here, we activated CD4+ T cells from 89 healthy donors and performed …
been fully explored. Here, we activated CD4+ T cells from 89 healthy donors and performed …
[HTML][HTML] Multi-ancestry meta-analysis of asthma identifies novel associations and highlights the value of increased power and diversity
Asthma is a complex disease that varies widely in prevalence across populations. The
extent to which genetic variation contributes to these disparities is unclear, as the genetics …
extent to which genetic variation contributes to these disparities is unclear, as the genetics …
[HTML][HTML] Deciphering the impact of genetic variation on human polyadenylation using APARENT2
Background 3′-end processing by cleavage and polyadenylation is an important and finely
tuned regulatory process during mRNA maturation. Numerous genetic variants are known to …
tuned regulatory process during mRNA maturation. Numerous genetic variants are known to …
[HTML][HTML] 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 …
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects
Bulk-tissue molecular quantitative trait loci (QTLs) have been the starting point for
interpreting disease-associated variants, and context-specific QTLs show particular …
interpreting disease-associated variants, and context-specific QTLs show particular …
[HTML][HTML] eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs
The eQTL Catalogue is an open database of uniformly processed human molecular
quantitative trait loci (QTLs). We are continuously updating the resource to further increase …
quantitative trait loci (QTLs). We are continuously updating the resource to further increase …
[HTML][HTML] The whole blood transcriptional regulation landscape in 465 COVID-19 infected samples from Japan COVID-19 Task Force
QS Wang, R Edahiro, H Namkoong… - Nature …, 2022 - nature.com
Abstract Coronavirus disease 2019 (COVID-19) is a recently-emerged infectious disease
that has caused millions of deaths, where comprehensive understanding of disease …
that has caused millions of deaths, where comprehensive understanding of disease …
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 RNA-seq coverage from DNA sequence as a unifying model of gene regulation
Sequence-based machine learning models trained on genome-scale biochemical assays
improve our ability to interpret genetic variants by providing functional predictions describing …
improve our ability to interpret genetic variants by providing functional predictions describing …
[HTML][HTML] The genetic basis of autoimmunity seen through the lens of T cell functional traits
KA Lagattuta, HL Park, L Rumker, K Ishigaki… - Nature …, 2024 - nature.com
Autoimmune disease heritability is enriched in T cell-specific regulatory regions of the
genome. Modern-day T cell datasets now enable association studies between single …
genome. Modern-day T cell datasets now enable association studies between single …