Gene regulatory network inference in the era of single-cell multi-omics
P Badia-i-Mompel, L Wessels, S Müller-Dott… - Nature Reviews …, 2023 - nature.com
The interplay between chromatin, transcription factors and genes generates complex
regulatory circuits that can be represented as gene regulatory networks (GRNs). The study …
regulatory circuits that can be represented as gene regulatory networks (GRNs). The study …
Molecular quantitative trait loci
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …
genetics, as much of disease-associated variation is located in non-coding regions with …
FinnGen provides genetic insights from a well-phenotyped isolated population
Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …
alleles are often concentrated on a small number of low-frequency variants (0.1%≤ minor …
FinnGen: Unique genetic insights from combining isolated population and national health register data
Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low …
spectrum of damaging alleles in any gene is often concentrated on a small number of low …
Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets
JH Zhao, D Stacey, N Eriksson… - Nature …, 2023 - nature.com
Circulating proteins have important functions in inflammation and a broad range of diseases.
To identify genetic influences on inflammation-related proteins, we conducted a genome …
To identify genetic influences on inflammation-related proteins, we conducted a genome …
Ensembl 2022
Abstract Ensembl (https://www. ensembl. org) is unique in its flexible infrastructure for access
to genomic data and annotation. It has been designed to efficiently deliver annotation at …
to genomic data and annotation. It has been designed to efficiently deliver annotation at …
DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits
M Oliva, K Demanelis, Y Lu, M Chernoff, F Jasmine… - Nature …, 2023 - nature.com
Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-
specific characterization of DNAm is needed to understand its role in gene regulation and its …
specific characterization of DNAm is needed to understand its role in gene regulation and its …
Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens
Most variants associated with complex traits and diseases identified by genome-wide
association studies (GWAS) map to noncoding regions of the genome with unknown effects …
association studies (GWAS) map to noncoding regions of the genome with unknown effects …
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci
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 …
complex traits, but identifying the causal gene (s) is a major challenge. In the present study …
[HTML][HTML] Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
H Hautakangas, BS Winsvold, SE Ruotsalainen… - Nature …, 2022 - nature.com
Migraine affects over a billion individuals worldwide but its genetic underpinning remains
largely unknown. Here, we performed a genome-wide association study of 102,084 …
largely unknown. Here, we performed a genome-wide association study of 102,084 …