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Article

Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes.

PLoS genetics - 1 Jan 2022

Rhine Christy L, Neil Christopher, Wang Jing, Maguire Samantha, Buerer Luke, Salomon Mitchell, Meremikwu Ijeoma C, Kim Juliana, Strande Natasha T, Fairbrother William G

Abstract excerpt

To determine the contribution of defective splicing in Autism Spectrum Disorders (ASD), the most common neurodevelopmental disorder, a high throughput Massively Parallel Splicing Assay (MaPSY) was employed and identified 42 exonic splicing mutants out of 725 coding de novo variants discovered in the sequencing of ASD families. A redesign of the minigene constructs in MaPSY revealed that upstream exons with strong...

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PMID: 35051175
DOI: 10.1371/journal.pgen.1009884
PMCID: PMC8775188

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