Applications of single-cell RNA sequencing in drug discovery and development

B Van de Sande, JS Lee, E Mutasa-Gottgens… - Nature Reviews Drug …, 2023 - nature.com
Single-cell technologies, particularly single-cell RNA sequencing (scRNA-seq) methods,
together with associated computational tools and the growing availability of public data …

Impact of the Human Cell Atlas on medicine

JE Rood, A Maartens, A Hupalowska, SA Teichmann… - Nature medicine, 2022 - nature.com
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 …

A compendium of genetic regulatory effects across pig tissues

J Teng, Y Gao, H Yin, Z Bai, S Liu, H Zeng… - Nature …, 2024 - nature.com
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 …

Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature Reviews …, 2023 - nature.com
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 …

Deciphering the impact of genomic variation on function

Code of Conduct Committee (alphabetical by last name … - Nature, 2024 - nature.com
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 …

Interpreting non-coding disease-associated human variants using single-cell epigenomics

KJ Gaulton, S Preissl, B Ren - Nature Reviews Genetics, 2023 - nature.com
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 …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

Immune mechanisms in fibrotic interstitial lung disease

M Kamiya, H Carter, MS Espindola, TJ Doyle, JS Lee… - Cell, 2024 - cell.com
Fibrotic interstitial lung diseases (fILDs) have poor survival rates and lack effective therapies.
Despite evidence for immune mechanisms in lung fibrosis, immunotherapies have been …

Single-cell genomics meets human genetics

ASE Cuomo, A Nathan, S Raychaudhuri… - Nature Reviews …, 2023 - nature.com
Single-cell genomic technologies are revealing the cellular composition, identities and
states in tissues at unprecedented resolution. They have now scaled to the point that it is …

Single-cell analysis in rheumatic and allergic diseases: insights for clinical practice

M Nishide, H Shimagami, A Kumanogoh - Nature Reviews Immunology, 2024 - nature.com
Since the advent of single-cell RNA sequencing (scRNA-seq) methodology, single-cell
analysis has become a powerful tool for exploration of cellular networks and dysregulated …