A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
Induced pluripotent stem cells in disease modelling and drug discovery
The derivation of induced pluripotent stem cells (iPSCs) over a decade ago sparked
widespread enthusiasm for the development of new models of human disease, enhanced …
widespread enthusiasm for the development of new models of human disease, enhanced …
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 …
SARS-CoV-2 induces double-stranded RNA-mediated innate immune responses in respiratory epithelial-derived cells and cardiomyocytes
Y Li, DM Renner, CE Comar… - Proceedings of the …, 2021 - National Acad Sciences
Coronaviruses are adept at evading host antiviral pathways induced by viral double-
stranded RNA, including interferon (IFN) signaling, oligoadenylate synthetase–ribonuclease …
stranded RNA, including interferon (IFN) signaling, oligoadenylate synthetase–ribonuclease …
Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci
The resources generated by the GTEx consortium offer unprecedented opportunities to
advance our understanding of the biology of human diseases. Here, we present an in-depth …
advance our understanding of the biology of human diseases. Here, we present an in-depth …
Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression
Recent developments in stem cell biology have enabled the study of cell fate decisions in
early human development that are impossible to study in vivo. However, understanding how …
early human development that are impossible to study in vivo. However, understanding how …
Bioengineering approaches for the advanced organoid research
Recent advances in 3D cell culture technology have enabled scientists to generate stem cell
derived organoids that recapitulate the structural and functional characteristics of native …
derived organoids that recapitulate the structural and functional characteristics of native …
A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological …
Nonalcoholic fatty liver disease (NAFLD) is a growing cause of chronic liver disease. Using
a proxy NAFLD definition of chronic elevation of alanine aminotransferase (cALT) levels …
a proxy NAFLD definition of chronic elevation of alanine aminotransferase (cALT) levels …
Genetics of common, complex coronary artery disease
K Musunuru, S Kathiresan - Cell, 2019 - cell.com
Coronary artery disease represents the leading cause of death worldwide, sparing no
nation, ethnicity, or economic stratum. Coronary artery disease is partly heritable. While …
nation, ethnicity, or economic stratum. Coronary artery disease is partly heritable. While …