Computational principles and challenges in single-cell data integration
The development of single-cell multimodal assays provides a powerful tool for investigating
multiple dimensions of cellular heterogeneity, enabling new insights into development …
multiple dimensions of cellular heterogeneity, enabling new insights into development …
Over 1000 tools reveal trends in the single-cell RNA-seq analysis landscape
Recent years have seen a revolution in single-cell RNA-sequencing (scRNA-seq)
technologies, datasets, and analysis methods. Since 2016, the scRNA-tools database has …
technologies, datasets, and analysis methods. Since 2016, the scRNA-tools database has …
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 …
Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …
variants contribute to gene expression, have been performed in heterogeneous brain …
A compendium of uniformly processed human gene expression and splicing quantitative trait loci
N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …
statistics, which can be used to gain insight into complex human traits by downstream …
Single-cell eQTL models reveal dynamic T cell state dependence of disease loci
Non-coding genetic variants may cause disease by modulating gene expression. However,
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …
Brain Chimeroids reveal individual susceptibility to neurotoxic triggers
N Antón-Bolaños, I Faravelli, T Faits, S Andreadis… - Nature, 2024 - nature.com
Interindividual genetic variation affects the susceptibility to and progression of many
diseases,. However, efforts to study how individual human brains differ in normal …
diseases,. However, efforts to study how individual human brains differ in normal …
Where are the disease-associated eQTLs?
Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …
have detectable effects on gene expression. One explanation could be that we have not …
Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
A reference human induced pluripotent stem cell line for large-scale collaborative studies
CB Pantazis, A Yang, E Lara, JA McDonough… - Cell stem cell, 2022 - cell.com
Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying
development and disease, but the considerable phenotypic variation between lines makes it …
development and disease, but the considerable phenotypic variation between lines makes it …