Brett Trost

The paper identifies ancestry-specific genetic loci associated with autism spectrum disorder using admixture mapping across diverse populations.

This study identifies rare tandem repeat expansions (TREs) in TOF patients, showing their enrichment in regulatory regions and association with DNA methylation and transcriptional changes.

The paper generates a high-resolution proteogenomic atlas of human neuronal development using long-read RNA sequencing and proteomics, revealing novel isoforms and their role in neurodevelopmental risk mechanisms.

The paper revises a human diploid genome assembly using a scalable workflow with Oxford Nanopore reads, achieving high accuracy and contiguity without ultra-long reads or other technologies.

The paper re-evaluates genome-wide significance thresholds for low-frequency variants in autism, identifying novel variants and their functional roles.

The paper evaluates codon usage bias in humans, showing its association with biological processes, protein structure, and tRNA abundance, while disentangling mutational pressure from translational selection.

GNAT identifies homologues and analyzes genomic neighborhoods to provide interactive visualizations and summary analytics for microbial and viral genomes.

The paper evaluates the role of compound heterozygous deletion events in autism by analyzing 9,766 families and finds modest enrichment of rare DelCH events in autistic individuals.

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

This study performs an X chromosome-wide association study (XWAS) in ASD, identifying 59 variants associated with ASD, including novel candidate genes like FGF13.

The paper measures transcription rate and mRNA half-life changes during human neuronal development and identifies transcriptional buffering as the most prevalent mode of gene regulation.

The paper maps neuron-specific protein networks of autism risk genes, identifies shared biological mechanisms, and links them to disease-relevant pathologies.

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.

This study identifies dynamic enhancer activity in the mouse cerebellum during development, discovers novel regulators, and links enhancers to autism-related variants.

The paper identifies genome-wide rare tandem repeat expansions associated with schizophrenia risk by comparing cases and controls.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.

ExpansionHunter Denovo detects known and novel repeat expansions in short-read sequencing data without requiring predefined repeat catalogs.

This study identifies a genetic variant that reduces interruption between CAG and CCG repeats in the HTT gene, leading to earlier onset of Huntington disease and increased somatic instability.