Summary
This narrative review describes how massively parallel reporter assays (MPRA) can functionally validate thousands of regulatory elements in a single experiment to identify causal genetic variants underlying neurodevelopmental disorders. The authors discuss various MPRA experimental designs capable of measuring effects of variants in regulatory elements and posttranscriptional processes, whilst acknowledging limitations such as lack of genomic context modelling. The paper proposes future applications including gene-by-environment interactions and pharmacogenetics.
Regional applicability
This is a methodology review without geographic specificity. The MPRA technique and its applications for validating neurodevelopmental disorder variants are internationally applicable and could support research in any region where genomic studies are conducted, including the United Kingdom.
Key measures
Gene regulatory effects of genetic variants; functional validation of noncoding sequences; high-throughput sequencing and barcode technology
Outcomes reported
This review examines how massively parallel reporter assays (MPRA) can functionally validate thousands of regulatory elements simultaneously to identify causal variants associated with neurodevelopmental disorders. The paper discusses various MPRA designs for measuring gene regulatory effects of genetic variants in cis- and trans-regulatory elements.
Topic tags
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