[HTML][HTML] A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
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 …

Challenges and opportunities for the next generation of cardiovascular tissue engineering

S Cho, DE Discher, KW Leong, G Vunjak-Novakovic… - Nature …, 2022 - nature.com
Engineered cardiac tissues derived from human induced pluripotent stem cells offer unique
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 …

Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

JA Morris, C Caragine, Z Daniloski, J Domingo, T Barry… - Science, 2023 - science.org
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 …

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 …

[HTML][HTML] Inferring and perturbing cell fate regulomes in human brain organoids

JS Fleck, SMJ Jansen, D Wollny, F Zenk, M Seimiya… - Nature, 2023 - nature.com
Self-organizing neural organoids grown from pluripotent stem cells,–combined with single-
cell genomic technologies provide opportunities to examine gene regulatory networks …

Organoid single-cell genomic atlas uncovers human-specific features of brain development

S Kanton, MJ Boyle, Z He, M Santel, A Weigert… - Nature, 2019 - nature.com
The human brain has undergone substantial change since humans diverged from
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 …

Induced pluripotent stem cells in disease modelling and drug discovery

RG Rowe, GQ Daley - Nature Reviews Genetics, 2019 - nature.com
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 …

[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 …