Where are the disease-associated eQTLs?

BD Umans, A Battle, Y Gilad - Trends in Genetics, 2021 - cell.com
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 …

Early developmental conditioning of later health and disease: physiology or pathophysiology?

MA Hanson, PD Gluckman - Physiological reviews, 2014 - journals.physiology.org
Extensive experimental animal studies and epidemiological observations have shown that
environmental influences during early development affect the risk of later pathophysiological …

Detecting natural selection in genomic data

JJ Vitti, SR Grossman, PC Sabeti - Annual review of genetics, 2013 - annualreviews.org
The past fifty years have seen the development and application of numerous statistical
methods to identify genomic regions that appear to be shaped by natural selection. These …

Aging increases cell-to-cell transcriptional variability upon immune stimulation

CP Martinez-Jimenez, N Eling, HC Chen, CA Vallejos… - Science, 2017 - science.org
Aging is characterized by progressive loss of physiological and cellular functions, but the
molecular basis of this decline remains unclear. We explored how aging affects …

The evolution of gene expression in cis and trans

SA Signor, SV Nuzhdin - Trends in Genetics, 2018 - cell.com
There is abundant variation in gene expression between individuals, populations, and
species. The evolution of gene regulation and expression within and between species is …

[HTML][HTML] Comparative single-cell transcriptomic analysis of primate brains highlights human-specific regulatory evolution

H Suresh, M Crow, N Jorstad, R Hodge… - Nature Ecology & …, 2023 - nature.com
Enhanced cognitive function in humans is hypothesized to result from cortical expansion
and increased cellular diversity. However, the mechanisms that drive these phenotypic …

Comparative transcriptomics in human and mouse

A Breschi, TR Gingeras, R Guigó - Nature Reviews Genetics, 2017 - nature.com
Cross-species comparisons of genomes, transcriptomes and gene regulation are now
feasible at unprecedented resolution and throughput, enabling the comparison of human …

Interpretable factor models of single-cell RNA-seq via variational autoencoders

V Svensson, A Gayoso, N Yosef, L Pachter - Bioinformatics, 2020 - academic.oup.com
Motivation Single-cell RNA-seq makes possible the investigation of variability in gene
expression among cells, and dependence of variation on cell type. Statistical inference …

Detecting signatures of selection on gene expression

PD Price, DH Palmer Droguett, JA Taylor… - Nature Ecology & …, 2022 - nature.com
A substantial amount of phenotypic diversity results from changes in gene expression levels
and patterns. Understanding how the transcriptome evolves is therefore a key priority in …

Gene regulatory network inference resources: A practical overview

D Mercatelli, L Scalambra, L Triboli, F Ray… - Biochimica et Biophysica …, 2020 - Elsevier
Transcriptional regulation is a fundamental molecular mechanism involved in almost every
aspect of life, from homeostasis to development, from metabolism to behavior, from reaction …