Mechanisms of enhancer action: the known and the unknown

A Panigrahi, BW O'Malley - Genome biology, 2021 - Springer
Differential gene expression mechanisms ensure cellular differentiation and plasticity to
shape ontogenetic and phylogenetic diversity of cell types. A key regulator of differential …

A new era in functional genomics screens

L Przybyla, LA Gilbert - Nature Reviews Genetics, 2022 - nature.com
The past 25 years of genomics research first revealed which genes are encoded by the
human genome and then a detailed catalogue of human genome variation associated with …

Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease

F **ao, X Zhang, SU Morton, SW Kim, Y Fan… - Nature …, 2024 - nature.com
Rare coding mutations cause∼ 45% of congenital heart disease (CHD). Noncoding
mutations that perturb cis-regulatory elements (CREs) likely contribute to the remaining …

CRISPR technologies for precise epigenome editing

M Nakamura, Y Gao, AA Dominguez, LS Qi - Nature Cell Biology, 2021 - nature.com
The epigenome involves a complex set of cellular processes governing genomic activity.
Dissecting this complexity necessitates the development of tools capable of specifically …

Enhancers in disease: molecular basis and emerging treatment strategies

A Claringbould, JB Zaugg - Trends in molecular medicine, 2021 - cell.com
Enhancers are genomic sequences that play a key role in regulating tissue-specific gene
expression levels. An increasing number of diseases are linked to impaired enhancer …

Genome-scale pan-cancer interrogation of lncRNA dependencies using CasRx

JJ Montero, R Trozzo, M Sugden, R Öllinger, A Belka… - Nature …, 2024 - nature.com
Although long noncoding RNAs (lncRNAs) dominate the transcriptome, their functions are
largely unexplored. The extensive overlap of lncRNAs with coding and regulatory …

Targeted Perturb-seq enables genome-scale genetic screens in single cells

D Schraivogel, AR Gschwind, JH Milbank, DR Leonce… - Nature …, 2020 - nature.com
The transcriptome contains rich information on molecular, cellular and organismal
phenotypes. However, experimental and statistical limitations constrain sensitivity and …

CRISPR screens for functional interrogation of immunity

H Shi, JG Doench, H Chi - Nature Reviews Immunology, 2023 - nature.com
CRISPR-based technologies represent a major breakthrough in biomedical science as they
offer a powerful platform for unbiased screening and functional genomics in various fields …

[HTML][HTML] Systematic epigenome editing captures the context-dependent instructive function of chromatin modifications

C Policarpi, M Munafò, S Tsagkris, V Carlini… - Nature Genetics, 2024 - nature.com
Chromatin modifications are linked with regulating patterns of gene expression, but their
causal role and context-dependent impact on transcription remains unresolved. Here we …

Engineered CRISPR-Cas12a for higher-order combinatorial chromatin perturbations

CCS Hsiung, CM Wilson, NA Sambold, R Dai… - Nature …, 2024 - nature.com
Multiplexed genetic perturbations are critical for testing functional interactions among coding
or non-coding genetic elements. Compared to double-stranded DNA cutting, repressive …