Scalable functional assays for the interpretation of human genetic variation

D Tabet, V Parikh, P Mali, FP Roth… - Annual Review of …, 2022 - annualreviews.org
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 …

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 …

Functional characterization of Alzheimer's disease genetic variants in microglia

X Yang, J Wen, H Yang, IR Jones, X Zhu, W Liu, B Li… - Nature …, 2023 - nature.com
Candidate cis-regulatory elements (cCREs) in microglia demonstrate the most substantial
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

JY Kishi, N Liu, ER West, K Sheng, JJ Jordanides… - Nature …, 2022 - nature.com
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 …

CRISPR screening in hematology research: from bulk to single-cell level

S Meyers, S Demeyer, J Cools - Journal of Hematology & Oncology, 2023 - Springer
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 …

Convergence of coronary artery disease genes onto endothelial cell programs

GR Schnitzler, H Kang, S Fang, RS Angom… - Nature, 2024 - nature.com
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 …

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 …

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 …

[HTML][HTML] Approaches to probe and perturb long noncoding RNA functions in diseases

G Wang, Y Lee-Yow, HY Chang - Current Opinion in Genetics & …, 2024 - Elsevier
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 …

Multiplex, single-cell CRISPRa screening for cell type specific regulatory elements

FM Chardon, TA McDiarmid, NF Page, RM Daza… - BioRxiv, 2023 - biorxiv.org
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 …