SFARI | Topic: Genetics

Differential effects by sex with Kmt5b loss.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Tissue-specific enhancer functional networks for associating distal regulatory regions to disease.

MIPP-Seq: Ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.

Whole-genome analysis of de novo and polymorphic retrotransposon insertions in autism spectrum disorder.

NeuroSCORE: A genome-wide omics-based model to identify candidate disease genes of the central nervous system.

SFARI genes and where to find them; classification modelling to identify genes associated with autism spectrum disorder from RNA-seq data.

Phenotypic effects of genetic variants associated with autism.

Identification and validation of expression quantitative trait loci (eQTLs) in discrete cell types across human brain development

In the current project, Nenad Sestan and Stephan Sanders plan to identify genomic variants and assess their effects on gene expression in single cells and brain tissue across human brain development. This will provide functional insight into neurobiological processes important for human brain development and function and which may be disrupted in neurodevelopmental and psychiatric disorders.

Mapping the common genetic architecture of fine and gross infant motor development in the context of autism

Motor development is an early behavioral domain that shows significant heritability and may have links with the development of autism. In the current project, Angelica Ronald and Mark Johnson seek to investigate these links further through initial gene discovery work on early motor development followed by state-of-the-art analyses testing for overlap in the common genetic architecture between motor development and autism.