TRAP-based allelic translation efficiency imbalance analysis to identify genetic regulation of ribosome occupancy in specific cell types in vivo.
Genetics
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
CHD8 dosage regulates transcription in pluripotency and early murine neural differentiation.
H-MAGMA, inheriting a shaky statistical foundation, yields excess false positives.
Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families.
Integrated metagenomic analysis of the oral microbiome in autism spectrum disorders
Enrico Domenici and colleagues aim to take advantage of the availability of whole-genome sequencing data from salivary DNA of participants in SPARK to verify the hypothesis of an altered microbiome in ASD. This proposal will extend the genetic characterization of the SPARK cohort beyond the host genome, building a framework for a systems biology view of the brain-microbiome axis in ASD.
Mutational bias and the protein code shape the evolution of splicing enhancers.
MTSplice predicts effects of genetic variants on tissue-specific splicing.
Clustering by phenotype and genome-wide association study in autism.
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