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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]