Joon‐Yong An
A5041088179- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Single-cell and spatial transcriptomics
- Angiogenesis and VEGF in Cancer
- Genomics and Chromatin Dynamics
- Bioinformatics and Genomic Networks
- Cancer Immunotherapy and Biomarkers
- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Cancer Genomics and Diagnostics
- Immune cells in cancer
- Epigenetics and DNA Methylation
- Atherosclerosis and Cardiovascular Diseases
- CRISPR and Genetic Engineering
- Gene expression and cancer classification
- Congenital heart defects research
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Ferroptosis and cancer prognosis
- Health, Environment, Cognitive Aging
- Chromosomal and Genetic Variations
- Neuroinflammation and Neurodegeneration Mechanisms
- Circadian rhythm and melatonin
Korea University
2019-2025
GeneMatrix (South Korea)
2023-2024
University of California, San Francisco
2017-2023
Center for Neurosciences
2019
Mount Sinai Health System
2019
The University of Queensland
2013-2018
INTRODUCTION The DNA of protein-coding genes is transcribed into mRNA, which translated proteins. “coding genome” describes the that contains information to make these proteins and represents ~1.5% human genome. Newly arising de novo mutations (variants observed in a child but not either parent) coding genome contribute numerous childhood developmental disorders, including autism spectrum disorder (ASD). Discovery effects aided by triplet code enables functional impact many be readily...
Genes implicated in neuropsychiatric disorders are active human fetal brain, yet difficult to study a longitudinal fashion. We demonstrate that organoids from pluripotent cells model cerebral cortical development on the molecular level before 16 weeks postconception. A multiomics analysis revealed differentially genes and enhancers, with greatest changes occurring at transition stem progenitors. Networks of converging gene enhancer modules were assembled into six four global patterns...
Variants in the SCN2A gene that disrupt encoded neuronal sodium channel NaV1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay, and infantile seizures. observed seizures predominantly missense, leading to a gain of function increased excitability. How variants associated with ASD affect excitability unclear.We examined properties 11 ASD-associated heterologous expression systems using whole-cell voltage-clamp electrophysiology immunohistochemistry....
Many putative genetic factors that confer risk to neurodevelopmental disorders such as autism spectrum (ASDs) and X-linked intellectual disability (XLID), neuropsychiatric including attention deficit hyperactivity disorder (ADHD) schizophrenia (SZ) have been identified in individuals from diverse human populations. Although there is significant aetiological heterogeneity within between these conditions, recent data show contribute their comorbidity. studies candidate gene associations for...
Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. We sequenced 689 participants with autism disorder (ASD) other developmental abnormalities construct a genome-wide map large SV. Using long-insert jumping libraries at 105X mean physical coverage linked-read whole-genome sequencing from 10X Genomics, we document seven major classes ~5 kb...
Gene expression levels vary across developmental stage, cell type, and region in the brain. Genomic variants also contribute to variation expression, some neuropsychiatric disorder loci may exert their effects through this mechanism. To investigate these relationships, we present BrainVar, a unique resource of paired whole-genome bulk tissue RNA sequencing from dorsolateral prefrontal cortex 176 individuals prenatal postnatal development. Here identify common that alter gene (expression...
Cellular heterogeneity in the human brain obscures identification of robust cellular regulatory networks, which is necessary to understand function non-coding elements and impact genetic variation. Here we integrate genome-wide chromosome conformation data from purified neurons glia with transcriptomic enhancer profiles, characterize gene landscape two major cell classes brain. We then leverage cell-type-specific landscapes gain insight into etiology several disorders. find that Alzheimer's...
lternative DNA conformations, termed non-B structures, can affect transcription, but the underlying mechanisms and their functional impact have not been systematically characterized. Here, we used computational genomic analyses coupled with massively parallel reporter assays (MPRAs) to show that certain structures a substantial effect on gene expression. Genomic found at promoters harbor an excess of germline variants. Analysis multiple MPRAs, including promoter library specifically designed...
Abstract T-cell position in the tumor microenvironment determines probability of target encounter and killing. CD8+ exclusion from parenchyma is associated with poor response to immunotherapy, yet biology that underpins this distinct pattern remains unclear. Here we show vascular destabilizing factor angiopoietin-2 (ANGPT2) causes compromised integrity periphery, leading impaired infiltration core. The spatial regulation ANGPT2 whole cross-sections was analyzed conjunction distribution,...
Many autism spectrum disorder (ASD)-associated genes act as transcriptional regulators (TRs). Chromatin immunoprecipitation sequencing (ChIP-seq) was used to identify the regulatory targets of ARID1B, BCL11A, FOXP1, TBR1, and TCF7L2, ASD-associated TRs in developing human mouse cortex. These shared substantial overlap binding sites, especially within open chromatin. The a promoter region, 1–2,000 bp upstream transcription start site, highly predictive brain-expressed genes. This signature...
Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly presenting at birth. Identifying the cause CA is essential for accurate diagnosis treatment. Using target-gene approach, genetic variants could be found in certain patients. However, some patients were genetically undiagnosed; therefore, it imperative to identify causative from whole genome sequence (WGS) data these An in-house pipeline utilizing DRAGEN-GATK-Hail...
A number of genetic studies have identified rare protein-coding DNA variations associated with autism spectrum disorder (ASD), a neurodevelopmental significant etiology and heterogeneity. In contrast, the contributions functional, regulatory that occur in extensive non-protein-coding regions genome remain poorly understood. Here we developed genome-wide analysis to identify single nucleotide variants (SNVs) non-coding determined function evolutionary conservation these variants. Using...
Summary We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies disruptive variants in individuals ascertained for severe neurodevelopmental delay, while 53 ASD; comparing ASD cases mutations groups reveals phenotypic differences....
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental associated with impaired social behavior and communication, repetitive behaviors, restricted interests. In addition to genetic factors, environmental factors such as prenatal drug exposure contribute the development of ASD. However, how those induce behavioral deficits in adult stage not clear. To elucidate ASD pathogenesis at molecular level, we performed high-resolution mass spectrometry-based quantitative proteomic analysis...
The hypothetical 'AXAS' gene network model that profiles functional patterns of heterogeneous DNA variants overrepresented in autism spectrum disorder (ASD), X-linked intellectual disability, attention deficit and hyperactivity schizophrenia was used this current study to analyze whole exome sequencing data from an Australian ASD cohort. An optimized variant filtering pipeline identify loss-of-function variations. Inherited parents with a broader phenotype de novo were found be significantly...
Genetic variants may lead to disease, denoted here by a dimmed letter representing nucleotide. The PsychENCODE Consortium presents research link the effects of genetic variation gene expression in brain.
Genetic variants in the voltage-gated sodium channels SCN1A, SCN2A, SCN3A, and SCN8A are leading causes of epilepsy, developmental delay, autism spectrum disorder. The mRNA splicing patterns all four genes vary across development rodent brain, including mutually exclusive copies fifth protein-coding exon detected neonate (5N) adult (5A). A second pair exons is reported only (18N 18A). We aimed to quantify expression individual developing human brain. RNA-seq data from 783 brain samples were...