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Pathogenic or benign?
CRISPR base- and prime-editing pooled screens reveal the function of genetic variants at unprecedented resolution.
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Open AccessMitigation of off-target toxicity in CRISPR-Cas9 screens for essential non-coding elements
Pooled CRISPR-Cas9 screens are a powerful method for functionally characterizing regulatory elements in the non-coding genome, but off-target effects in these experiments have not been systematically evaluated...
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Article
A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies
Primary cilia organize Hedgehog signaling and shape embryonic development, and their dysregulation is the unifying cause of ciliopathies. We conducted a functional genomic screen for Hedgehog signaling by engi...
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Open AccessThe impact of rare variation on gene expression across tissues
The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.
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Open AccessGenome-scale measurement of off-target activity using Cas9 toxicity in high-throughput screens
CRISPR-Cas9 screens are powerful tools for high-throughput interrogation of genome function, but can be confounded by nuclease-induced toxicity at both on- and off-target sites, likely due to DNA damage. Here,...
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Article
Population- and individual-specific regulatory variation in Sardinia
Francesco Cucca, Stephen Montgomery and colleagues identify regulatory variants that influence gene expression and splicing using whole-genome and transcriptome sequence data from 624 Sardinians. They find a h...
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Synergistic drug combinations for cancer identified in a CRISPR screen for pairwise genetic interactions
An improved strategy for large-scale combinatorial CRISPR screening enables the identification of synergistic drug targets for cancer.
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Directed evolution using dCas9-targeted somatic hypermutation in mammalian cells
Recruiting a hyperactive cytidine deaminase via the guide RNA to dCas9 allows for the introduction of diverse point mutations at the CRISPR target locus to create complex libraries of variants for protein engi...
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Article
Translation readthrough mitigation
Translation termination sequences are occasionally bypassed by the ribosome and the resulting proteins can be detrimental to the cell; here it is shown that cells can prevent such proteins from accumulating th...