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Table 4 Representative studies of large-scale forward-genetic methods applied to cellular system, that can be (or have been already) adapted to couple iPSC-derived neuronal cell models to ASD genetics

From: Mind the translational gap: using iPS cell models to bridge from genetic discoveries to perturbed pathways and therapeutic targets

Platform

Technology

Short description

References

MPRAs

Saturation mutagenesis with MPRAs

Mutagenesis on disease-associated gene promoters and enhancers

Kircher et al. [175]

Targeted variants mutagenesis with MPRAs

Functional dissection of common genetic Variation

Ulirsch et al. [176]

CRISPR screens

Perturb-seq

CRISPR screen combined with single cell RNA-seq (scRNA-seq)

Dixit et al. [122]

CRISPRa/i screens

CRISPR screens modulating gene expression

Tian et al. [177]

CREST-seq

Cis-regulatory elements scan by tiling-deletions

Diao et al. [178]

MOSAIC-seq

Genome-wide CRISP/i screens targeting enhancers

Xie et al. [179]

CRISPR-flowFISH

RNA-FISH coupled to genome-wide CRISP/i screens targeting enhancers

Fulco et al. [180]

CRISPR targeting

CRISPRa/i gene targeting

CRISPRa/i-mediated modulation of selected regulatory regions

Gasperini et al. [181]

CRISPR-mediated allelic replacement

CRISPR-mediated nonhomologous end joining (NHEJ) or homology-directed repair (HDR)

Ran et al. [117]