A5100688042- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Congenital heart defects research
- RNA and protein synthesis mechanisms
- Molecular Biology Techniques and Applications
- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Autism Spectrum Disorder Research
Washington University in St. Louis
2023-2025
ABSTRACT Genomic studies of autism and other neurodevelopmental disorders have identified several relevant protein-coding noncoding variants. One gene with an excess de novo variants is EBF3 that also the underlying Hypotonia, Ataxia, Delayed Development Syndrome (HADDS). In previous work, we in enhancer called hs737 further showed there was enrichment deletions this individuals disorders. present study, generated a novel mouse line deletes highly conserved, orthologous region within...
Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low resolution strategies (i.e., karyotypes, microarrays). We present the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with 9p-related including 85 unrelated probands through 9P-ARCH (Advanced Research in Chromosomal Health: Genomic, Phenotypic, Functional Aspects 9p-Related syndromes) research network. analyzed architecture these syndromes, highlighting...
Recently, Pacific Biosciences released a new highly accurate long-read sequencer called the Revio System that is projected to generate 30× HiFi whole-genome sequencing for human genome within one SMRT Cell. Mouse and genomes are similar in size. In this study, we sought test by characterizing epigenome of mouse neuronal cell line Neuro-2a. We generated on three Cells, achieving total coverage 98×, with 30×, 32×, 36× respectively each Cells. performed several tests these data including...
Missense de novo variants (DNVs) and missense somatic contribute to neurodevelopmental disorders (NDDs) cancer, respectively. Proteins with statistical enrichment based on analyses of these exhibit convergence in the differing NDD cancer phenotypes. Herein, question why some same proteins are identified both phenotypes is examined through investigation clustering variation at protein level. Our hypothesis that present different locations two leading distinct phenotypic outcomes. We tested...