Measuring transcription factor binding and gene expression using barcoded self-reporting transposon calling cards and transcriptomes.
Genetics
GATK-gCNV: A rare copy number variant discovery algorithm and its application to exome sequencing in the UK Biobank.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Isoform-level transcriptome-wide association uncovers extensive novel genetic risk mechanisms for neuropsychiatric disorders in the human brain.
A cross-disorder dosage sensitivity map of the human genome.
Deep embedded clustering by relevant scales and genome-wide association study in autism.
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.
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