Scalable functional assays for the interpretation of human genetic variation
Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …
hundreds of thousands of coding and noncoding genetic variants in the human genome …
Pooled Genome-Scale CRISPR Screens in Single Cells
D Schraivogel, LM Steinmetz… - Annual Review of …, 2023 - annualreviews.org
Assigning functions to genes and learning how to control their expression are part of the
foundation of cell biology and therapeutic development. An efficient and unbiased method to …
foundation of cell biology and therapeutic development. An efficient and unbiased method to …
Functional characterization of Alzheimer's disease genetic variants in microglia
Candidate cis-regulatory elements (cCREs) in microglia demonstrate the most substantial
enrichment for Alzheimer's disease (AD) heritability compared to other brain cell types …
enrichment for Alzheimer's disease (AD) heritability compared to other brain cell types …
Light-Seq: light-directed in situ barcoding of biomolecules in fixed cells and tissues for spatially indexed sequencing
Abstract We present Light-Seq, an approach for multiplexed spatial indexing of intact
biological samples using light-directed DNA barcoding in fixed cells and tissues followed by …
biological samples using light-directed DNA barcoding in fixed cells and tissues followed by …
CRISPR screening in hematology research: from bulk to single-cell level
The CRISPR genome editing technology has revolutionized the way gene function is
studied. Genome editing can be achieved in single genes or for thousands of genes …
studied. Genome editing can be achieved in single genes or for thousands of genes …
Convergence of coronary artery disease genes onto endothelial cell programs
Linking variants from genome-wide association studies (GWAS) to underlying mechanisms
of disease remains a challenge,–. For some diseases, a successful strategy has been to …
of disease remains a challenge,–. For some diseases, a successful strategy has been to …
Current methodological challenges of single-cell and single-nucleus RNA-sequencing in glomerular diseases
D Deleersnijder, J Callemeyn, I Arijs… - Journal of the …, 2021 - journals.lww.com
Single-cell RNA sequencing (scRNA-seq) and single-nucleus RNA-seq (snRNA-seq) allow
transcriptomic profiling of thousands of cells from a renal biopsy specimen at a single-cell …
transcriptomic profiling of thousands of cells from a renal biopsy specimen at a single-cell …
Minimal gene set discovery in single-cell mRNA-seq datasets with ActiveSVM
X Chen, S Chen, M Thomson - Nature Computational Science, 2022 - nature.com
Sequencing costs currently prohibit the application of single-cell mRNA-seq to many
biological and clinical analyses. Targeted single-cell mRNA-sequencing reduces …
biological and clinical analyses. Targeted single-cell mRNA-sequencing reduces …
[HTML][HTML] Approaches to probe and perturb long noncoding RNA functions in diseases
Long noncoding RNAs (lncRNAs) are a class of RNA molecules exceeding 200 nucleotides
in length that lack long open-reading frames. Transcribed predominantly by RNA …
in length that lack long open-reading frames. Transcribed predominantly by RNA …
Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements
CRISPR-based gene activation (CRISPRa) is a promising therapeutic approach for gene
therapy, upregulating gene expression by targeting promoters or enhancers in a tissue/cell …
therapy, upregulating gene expression by targeting promoters or enhancers in a tissue/cell …