[HTML][HTML] 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 …
Challenges and opportunities for the next generation of cardiovascular tissue engineering
Engineered cardiac tissues derived from human induced pluripotent stem cells offer unique
opportunities for patient-specific disease modeling, drug discovery and cardiac repair. Since …
opportunities for patient-specific disease modeling, drug discovery and cardiac repair. Since …
[HTML][HTML] A compendium of uniformly processed human gene expression and splicing quantitative trait loci
N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …
statistics, which can be used to gain insight into complex human traits by downstream …
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 …
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes
J Schwartzentruber, S Cooper, JZ Liu… - Nature …, 2021 - nature.com
Genome-wide association studies have discovered numerous genomic loci associated with
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …
Alzheimer's disease (AD); yet the causal genes and variants are incompletely identified. We …
[HTML][HTML] Inferring and perturbing cell fate regulomes in human brain organoids
Self-organizing neural organoids grown from pluripotent stem cells,–combined with single-
cell genomic technologies provide opportunities to examine gene regulatory networks …
cell genomic technologies provide opportunities to examine gene regulatory networks …
Organoid single-cell genomic atlas uncovers human-specific features of brain development
The human brain has undergone substantial change since humans diverged from
chimpanzees and the other great apes,. However, the genetic and developmental programs …
chimpanzees and the other great apes,. However, the genetic and developmental programs …
[HTML][HTML] Cell types of the human retina and its organoids at single-cell resolution
CS Cowan, M Renner, M De Gennaro, B Gross-Scherf… - Cell, 2020 - cell.com
Human organoids recapitulating the cell-type diversity and function of their target organ are
valuable for basic and translational research. We developed light-sensitive human retinal …
valuable for basic and translational research. We developed light-sensitive human retinal …
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 …
[HTML][HTML] Genomic basis for RNA alterations in cancer
PCAWG Transcriptome Core Group Calabrese Claudia … - Nature, 2020 - nature.com
Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …
RNA alterations have been described in cancer, including overexpression, altered splicing …