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 …

Allele-specific expression (ASE) is a powerful signal that can be used to investigate multiple
molecular mechanisms, such as cis-regulatory effects and imprinting. Single-cell RNA …

Detecting allelic imbalance at the isoform level requires accounting for inferential
uncertainty, caused by multi-mapping of RNA-seq reads. Our proposed method, SEESAW …

An expression quantitative trait locus (eQTL) is a chromosomal region where genetic
variants are associated with the expression levels of specific genes that can be both nearby …

Differential allele-specific expression (ASE) is a powerful tool to study context-specific cis-
regulation of gene expression. Such effects can reflect the interaction between genetic or …

Allele-specific expression plays a crucial role in unraveling various biological mechanisms,
including genomic imprinting and gene expression controlled by cis-regulatory variants …

Plants adapt to their local environment through complex interactions between genes, gene
networks and hormones. Although the impact of gene expression on trait regulation and …

Hormones act within in highly dynamic systems and much of the phenotypic response to
variation in hormone levels is mediated by changes in gene expression. The increase in the …

The regulatory elements in proximal and distal regions of genes are involved in the
regulation of gene expression. Risk alleles in intronic and intergenic regions may alter gene …

Genetic variation is a key factor influencing cytokine production capacity, but which genetic
loci regulate cytokine production before and after vaccination, particularly in African …