SFARI | Topic: Genetics

Genomic variation in centromeric proximal regions and risk of autism

Identification of genetic contributions to autism risk has the potential to greatly improve the efficacy of diagnostic methods and treatment approaches. In the current project, Charles Langley and Gary Karpen plan to take advantage of recent improvements in human genome sequencing and analysis to determine if variation in the size or composition of previously inaccessible regions enriched for repeated DNAs impact autism risk.

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.

Targeted de novo phasing and long-range assembly by template mutagenesis.

Polygenic architecture of rare coding variation across 400,000 exomes.

Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data.

Discovery of eQTL alleles associated with autism spectrum disorder: A case-control study.

Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.

Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.

Rare CNVs and phenome-wide profiling: A tale of brain-structural divergence and phenotypical convergence.

Rare variants and the oligogenic architecture of autism.