Base editor screens for in situ mutational scanning at scale

NZ Lue, BB Liau - Molecular Cell, 2023 - cell.com
A fundamental challenge in biology is understanding the molecular details of protein
function. How mutations alter protein activity, regulation, and response to drugs is of critical …

CRISPR technologies for genome, epigenome and transcriptome editing

L Villiger, J Joung, L Koblan, J Weissman… - … Reviews Molecular Cell …, 2024 - nature.com
Our ability to edit genomes lags behind our capacity to sequence them, but the growing
understanding of CRISPR biology and its application to genome, epigenome and …

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification

J Ryu, S Barkal, T Yu, M Jankowiak, Y Zhou… - Nature Genetics, 2024 - nature.com
CRISPR base editing screens enable analysis of disease-associated variants at scale;
however, variable efficiency and precision confounds the assessment of variant-induced …

Base-editing mutagenesis maps alleles to tune human T cell functions

R Schmidt, CC Ward, R Dajani, Z Armour-Garb, M Ota… - Nature, 2024 - nature.com
CRISPR-enabled screening is a powerful tool for the discovery of genes that control T cell
function and has nominated candidate targets for immunotherapies,,,,–. However, new …

MEF2C regulates NK cell effector functions through control of lipid metabolism

JH Li, A Zhou, CD Lee, SN Shah, JH Ji… - Nature …, 2024 - nature.com
Natural killer (NK) cells are a critical first line of defense against viral infection. Rare
mutations in a small subset of transcription factors can result in decreased NK cell numbers …

[HTML][HTML] scSNV-seq: high-throughput phenotyping of single nucleotide variants by coupled single-cell genotyping and transcriptomics

SE Cooper, MA Coelho, ME Strauss, AM Gontarczyk… - Genome Biology, 2024 - Springer
CRISPR screens with single-cell transcriptomic readouts are a valuable tool to understand
the effect of genetic perturbations including single nucleotide variants (SNVs) associated …

[HTML][HTML] Diversity and scale: genetic architecture of 2,068 traits in the VA Million Veteran Program

A Verma, JE Huffman, A Rodriguez, M Conery, M Liu… - medRxiv, 2023 - ncbi.nlm.nih.gov
Genome-wide association studies (GWAS) have underrepresented individuals from non-
European populations, impeding progress in characterizing the genetic architecture and …

Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens

ZH Walsh, P Shah, N Kothapalli, SB Shah… - Nature …, 2024 - nature.com
Single-nucleotide variants (SNVs) in key T cell genes can drive clinical pathologies and
could be repurposed to improve cellular cancer immunotherapies. Here, we perform …

Population Diversity at the Single-Cell Level

MG Gordon, P Kathail, B Choy, MC Kim… - Annual Review of …, 2024 - annualreviews.org
Population-scale single-cell genomics is a transformative approach for unraveling the
intricate links between genetic and cellular variation. This approach is facilitated by cutting …

[HTML][HTML] Breaking enhancers to gain insights into developmental defects

DA Armendariz, A Sundarrajan, GC Hon - Elife, 2023 - elifesciences.org
Despite ground-breaking genetic studies that have identified thousands of risk variants for
developmental diseases, how these variants lead to molecular and cellular phenotypes …