[HTML][HTML] Guidelines for bioinformatics of single-cell sequencing data analysis in Alzheimer's disease: review, recommendation, implementation and application

M Wang, W Song, C Ming, Q Wang, X Zhou… - Molecular …, 2022 - Springer
Alzheimer's disease (AD) is the most common form of dementia, characterized by
progressive cognitive impairment and neurodegeneration. Extensive clinical and genomic …

[HTML][HTML] Decoding the human face: progress and challenges in understanding the genetics of craniofacial morphology

S Naqvi, H Hoskens, F Wilke… - Annual review of …, 2022 - annualreviews.org
Variations in the form of the human face, which plays a role in our individual identities and
societal interactions, have fascinated scientists and artists alike. Here, we review our current …

Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

G Eraslan, E Drokhlyansky, S Anand, E Fiskin… - Science, 2022 - science.org
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …

Single-cell eQTL models reveal dynamic T cell state dependence of disease loci

A Nathan, S Asgari, K Ishigaki, C Valencia, T Amariuta… - Nature, 2022 - nature.com
Non-coding genetic variants may cause disease by modulating gene expression. However,
identifying these expression quantitative trait loci (eQTLs) is complicated by differences in …

[HTML][HTML] Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation

B Soskic, E Cano-Gamez, DJ Smyth, K Ambridge… - Nature …, 2022 - nature.com
During activation, T cells undergo extensive gene expression changes that shape the
properties of cells to exert their effector function. Understanding the regulation of this …

[HTML][HTML] Single-cell RNA-sequencing of peripheral blood mononuclear cells reveals widespread, context-specific gene expression regulation upon pathogenic …

R Oelen, DH de Vries, H Brugge, MG Gordon… - Nature …, 2022 - nature.com
The host's gene expression and gene regulatory response to pathogen exposure can be
influenced by a combination of the host's genetic background, the type of and exposure time …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

[HTML][HTML] Gastruloids: Pluripotent stem cell models of mammalian gastrulation and embryo engineering

AM Arias, Y Marikawa, N Moris - Developmental biology, 2022 - Elsevier
Gastrulation is a fundamental and critical process of animal development whereby the mass
of cells that results from the proliferation of the zygote transforms itself into a recognizable …

[HTML][HTML] Single-cell and single-nuclei RNA sequencing as powerful tools to decipher cellular heterogeneity and dysregulation in neurodegenerative diseases

R Cuevas-Diaz Duran, JC González-Orozco… - Frontiers in Cell and …, 2022 - frontiersin.org
Neurodegenerative diseases affect millions of people worldwide and there are currently no
cures. Two types of common neurodegenerative diseases are Alzheimer's (AD) and …

[HTML][HTML] Single-cell sequencing reveals lineage-specific dynamic genetic regulation of gene expression during human cardiomyocyte differentiation

R Elorbany, JM Popp, K Rhodes, BJ Strober… - PLoS …, 2022 - journals.plos.org
Dynamic and temporally specific gene regulatory changes may underlie unexplained
genetic associations with complex disease. During a dynamic process such as cellular …