SFARI | Topic: Genetics

Next-Generation Sequencing in Autism Spectrum Disorder.

Regulatory genes and pathways disrupted in autism spectrum disorders.

Outgroup machine learning approach identifies single nucleotide variants in noncoding DNA associated with autism spectrum disorder.

A reference haplotype panel for genome-wide imputation of short tandem repeats.

Identification of common genetic risk variants for autism spectrum disorder.

A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.

Recessive rare variants in deoxyhypusine synthase, an enzyme involved in the synthesis of hypusine, are associated with a neurodevelopmental disorder.

Predicting splicing from primary sequence with deep learning.

Both rare and common genetic variants contribute to autism in the Faroe Islands.

Identification and functional analysis of noncoding mutations in autism

The genetic and phenotypic complexity of ASD is thought to, in part, be caused by abnormal gene regulation. Ryan Doan plans to systematically screen for noncoding mutations with the greatest likelihood of impacting gene regulation (i.e., gene promoters, splicing regulators, cis-regulatory elements) using both computational predictions and large-scale functional screening assays. Findings from this project will help to elucidate the mechanistic underpinnings of these ASD risk mutations and provide a functional database for use in the future development of therapeutics.