Base-editing screens illuminate variant effects in human hematopoiesis

A Vaitsiankova, T Thakar, A Ciccia - Cell Reports Methods, 2023 - cell.com
In a recent issue of Cell, Martin-Rufino et al. develop a strategy for performing high-
throughput base-editing CRISPR screens coupled with single-cell readouts in the context of …

Single-cell investigative genetics: Single-cell data produces genotype distributions concentrated at the true genotype across all mixture complexities

CM Grgicak, Q Bhembe, K Slooten, NC Sheth… - Forensic Science …, 2024 - Elsevier
In the absence of a suspect the forensic aim is investigative, and the focus is one of
discerning what genotypes best explain the evidence. In traditional systems, the list of …

Precise genome-editing in human diseases: mechanisms, strategies and applications

Y Zheng, Y Li, K Zhou, T Li, NJ VanDusen… - Signal Transduction and …, 2024 - nature.com
Precise genome-editing platforms are versatile tools for generating specific, site-directed
DNA insertions, deletions, and substitutions. The continuous enhancement of these tools …

[HTML][HTML] Trans-eQTL hotspots shape complex traits by modulating cellular states

K Renganaath, FW Albert - bioRxiv, 2023 - ncbi.nlm.nih.gov
Regulatory genetic variation shapes gene expression, providing an important mechanism
connecting DNA variation and complex traits. The causal relationships between gene …

Base editors dissect genetic variants in human hematopoietic cells on a large scale

EP Papapetrou - Trends in Immunology, 2023 - cell.com
In a recent study, Martin-Rufino and colleagues combined massively parallel base editing in
primary human hematopoietic stem and progenitor cells (HSPCs) with functional and single …

[HTML][HTML] Health research in the era of artificial intelligence: Advances in gene-editing study

M Dai, X Li, Q Zhang, T Liang, X Huang, Q Fu - Medicine Plus, 2024 - Elsevier
In recent years, gene editing technology, represented by clustered regularly interspaced
short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) has made a …

Defining the function of disease variants with CRISPR editing and multimodal single cell sequencing

Y Baglaenko, M Curtis, M Al Suqri, R Agnew, HM Mire… - bioRxiv, 2024 - biorxiv.org
Genetic studies have identified thousands of individual disease-associated non-coding
alleles, but identification of the causal alleles and their functions remain critical bottlenecks …

Atlas of Cynomolgus Macaque Hematopoiesis

S Oshima, R Sinha, K Takeuchi, K Mizuta, T Nakamura… - bioRxiv, 2024 - biorxiv.org
Self-renewal and differentiation are inherent properties of hematopoietic stem cells (HSCs)
that are necessary to support hematopoiesis; however, the underlying mechanisms …

Cell sorting based on single nucleotide variation enables characterization of mutation-dependent transcriptome and chromatin states.

R Salatino, M Franco, A Romero-Toledo, Y Wang… - bioRxiv, 2024 - biorxiv.org
Single nucleotide variants (SNVs) contribute to cancer by altering the coding and the non-
coding regions of the genome. Connecting SNVs to transcriptomic and epigenetic changes …

The Impact of Genomic Variation on Function (IGVF) Consortium

I Consortium - arXiv preprint arXiv:2307.13708, 2023 - arxiv.org
Our genomes influence nearly every aspect of human biology from molecular and cellular
functions to phenotypes in health and disease. Human genetics studies have now …