Microglial efferocytosis: diving into the Alzheimer's disease gene pool

C Romero-Molina, F Garretti, SJ Andrews, E Marcora… - Neuron, 2022 - cell.com
Genome-wide association studies and functional genomics studies have linked specific cell
types, genes, and pathways to Alzheimer's disease (AD) risk. In particular, AD risk alleles …

Non-coding driver mutations in human cancer

K Elliott, E Larsson - Nature Reviews Cancer, 2021 - nature.com
Tumour formation involves random mutagenic events and positive evolutionary selection
acting on a subset of such events, referred to as driver mutations. A decade of careful …

[HTML][HTML] Multi-omics single-cell data integration and regulatory inference with graph-linked embedding

ZJ Cao, G Gao - Nature Biotechnology, 2022 - nature.com
Despite the emergence of experimental methods for simultaneous measurement of multiple
omics modalities in single cells, most single-cell datasets include only one modality. A major …

[HTML][HTML] Cohesin and CTCF control the dynamics of chromosome folding

P Mach, PI Kos, Y Zhan, J Cramard, S Gaudin… - Nature …, 2022 - nature.com
In mammals, interactions between sequences within topologically associating domains
enable control of gene expression across large genomic distances. Yet it is unknown how …

[PDF][PDF] A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature …, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

M Ghoussaini, E Mountjoy, M Carmona… - Nucleic acids …, 2021 - academic.oup.com
Abstract Open Targets Genetics (https://genetics. opentargets. org) is an open-access
integrative resource that aggregates human GWAS and functional genomics data including …

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

E Mountjoy, EM Schmidt, M Carmona… - Nature …, 2021 - nature.com
Genome-wide association studies (GWASs) have identified many variants associated with
complex traits, but identifying the causal gene (s) is a major challenge. In the present study …

Transcriptional coupling of distant regulatory genes in living embryos

M Levo, J Raimundo, XY Bing, Z Sisco, PJ Batut… - Nature, 2022 - nature.com
The prevailing view of metazoan gene regulation is that individual genes are independently
regulated by their own dedicated sets of transcriptional enhancers. Past studies have …

Single-cell transcriptome analysis reveals dynamic cell populations and differential gene expression patterns in control and aneurysmal human aortic tissue

Y Li, P Ren, A Dawson, HG Vasquez, W Ageedi… - Circulation, 2020 - Am Heart Assoc
Background: Ascending thoracic aortic aneurysm (ATAA) is caused by the progressive
weakening and dilatation of the aortic wall and can lead to aortic dissection, rupture, and …