Single-cell technologies, particularly single-cell RNA sequencing (scRNA-seq) methods,
together with associated computational tools and the growing availability of public data …

Single-cell atlases promise to provide a 'missing link'between genes, diseases and
therapies. By identifying the specific cell types, states, programs and contexts where disease …

Common genetic variants confer substantial risk for chronic lung diseases, including
pulmonary fibrosis. Defining the genetic control of gene expression in a cell-type-specific …

Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …

Abstract The Farm Animal Genotype-Tissue Expression (FarmGTEx) project has been
established to develop a public resource of genetic regulatory variants in livestock, which is …

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 …

Our genomes influence nearly every aspect of human biology—from molecular and cellular
functions to phenotypes in health and disease. Studying the differences in DNA sequence …

Genome-wide association studies (GWAS) have linked hundreds of thousands of sequence
variants in the human genome to common traits and diseases. However, translating this …

Cis-regulatory elements (CREs) interact with trans regulators to orchestrate gene
expression, but how transcriptional regulation is coordinated in multi-gene loci has not been …

Autoimmune diseases display a high degree of comorbidity within individuals and families,
suggesting shared risk factors. Over the past 15 years, genome-wide association studies …