Genetic studies of human traits have revolutionized our understanding of the variation between individuals, and yet, the genetics of most traits is still poorly understood. In this …
GM Findlay - Human molecular genetics, 2021 - academic.oup.com
The application of genomics to medicine has accelerated the discovery of mutations underlying disease and has enhanced our knowledge of the molecular underpinnings of …
Most variants in most genes across most organisms have an unknown impact on the function of the corresponding gene. This gap in knowledge is especially acute in cancer …
Small molecule treatment and gene knockout or overexpression induce complex changes in the molecular states of cells, and the space of possible perturbations is too large to measure …
Genome-wide association studies (GWAS) provide a powerful means to identify loci and genes contributing to disease, but in many cases the related cell types/states through which …
Results In this work, we present the Inferelator 3.0, which has been significantly updated to integrate data from distinct cell types to learn context-specific regulatory networks and …
Motivation Gene regulatory networks define regulatory relationships between transcription factors and target genes within a biological system, and reconstructing them is essential for …
S Lee, J Kim, JE Park - Molecules and cells, 2021 - Elsevier
Since the introduction of RNA sequencing (RNA-seq) as a high-throughput mRNA expression analysis tool, this procedure has been increasingly implemented to identify cell …
Although population-scale databases have expanded to millions of protein-coding variants, insight into variant mechanisms has not kept pace. We present PROD-ATAC, a high …