Frequent aneuploidy in primary human T cells after CRISPR–Cas9 cleavage
Multiple clinical trials of allogeneic T cell therapy use site-specific nucleases to disrupt T cell
receptor (TCR) and other genes,,,,–. In this study, using single-cell RNA sequencing, we …
receptor (TCR) and other genes,,,,–. In this study, using single-cell RNA sequencing, we …
[HTML][HTML] Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
Genomic architecture and functional effects of potential human inversion supergenes
E Campoy, M Puig, I Yakymenko… - … of the Royal …, 2022 - royalsocietypublishing.org
Supergenes are involved in adaptation in multiple organisms, but they are little known in
humans. Genomic inversions are the most common mechanism of supergene generation …
humans. Genomic inversions are the most common mechanism of supergene generation …
A survey of current methods to detect and genotype inversions
Polymorphic inversions are ubiquitous in humans and they have been linked to both
adaptation and disease. Following their discovery in Drosophila more than a century ago …
adaptation and disease. Following their discovery in Drosophila more than a century ago …
Detailed stratified GWAS analysis for severe COVID-19 in four European populations
F Degenhardt, D Ellinghaus, S Juzenas… - Human molecular …, 2022 - academic.oup.com
Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a
deeper analysis of the host genetic contribution to severe COVID-19 is important to improve …
deeper analysis of the host genetic contribution to severe COVID-19 is important to improve …
Inversion polymorphism in a complete human genome assembly
The telomere-to-telomere (T2T) complete human reference has significantly improved our
ability to characterize genome structural variation. To understand its impact on inversion …
ability to characterize genome structural variation. To understand its impact on inversion …
The early-life exposome modulates the effect of polymorphic inversions on DNA methylation
Polymorphic genomic inversions are chromosomal variants with intrinsic variability that play
important roles in evolution, environmental adaptation, and complex traits. We investigated …
important roles in evolution, environmental adaptation, and complex traits. We investigated …
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
FAM Maggiolini, AD Sanders, CJ Shew… - Genome …, 2020 - genome.cshlp.org
Rhesus macaque is an Old World monkey that shared a common ancestor with human∼ 25
Myr ago and is an important animal model for human disease studies. A deep …
Myr ago and is an important animal model for human disease studies. A deep …
Correction of a Factor VIII genomic inversion with designer-recombinases
F Lansing, L Mukhametzyanova… - Nature …, 2022 - nature.com
Despite advances in nuclease-based genome editing technologies, correcting human
disease-causing genomic inversions remains a challenge. Here, we describe the potential …
disease-causing genomic inversions remains a challenge. Here, we describe the potential …
Genomic structural variation: A complex but important driver of human evolution
Structural variants (SVs)—including duplications, deletions, and inversions of DNA—can
have significant genomic and functional impacts but are technically difficult to identify and …
have significant genomic and functional impacts but are technically difficult to identify and …