A5006266154- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
- Bioinformatics and Genomic Networks
- Genetics and Neurodevelopmental Disorders
- Alcohol Consumption and Health Effects
- Face and Expression Recognition
- Advanced X-ray and CT Imaging
- Emotion and Mood Recognition
- Genetic Mapping and Diversity in Plants and Animals
- Substance Abuse Treatment and Outcomes
- Face recognition and analysis
- Radiomics and Machine Learning in Medical Imaging
- Neurotransmitter Receptor Influence on Behavior
- Speech and Audio Processing
- RNA modifications and cancer
- Health, Environment, Cognitive Aging
- Gene expression and cancer classification
- COVID-19 diagnosis using AI
- Single-cell and spatial transcriptomics
- Smoking Behavior and Cessation
- Diabetes and associated disorders
- Peroxisome Proliferator-Activated Receptors
- Advanced Neural Network Applications
- Nicotinic Acetylcholine Receptors Study
Lieber Institute for Brain Development
2020-2025
Johns Hopkins Medicine
2018-2025
Johns Hopkins University
2017-2025
Qualcomm (United Kingdom)
2023
Sigma Technologies (United States)
2019-2020
University of Iowa
2013-2019
University of Iowa Hospitals and Clinics
2018
University of South Carolina
2013-2018
Yale University
2009-2014
VA Connecticut Healthcare System
2011-2013
Differential DNA methylation in the brain is associated with many psychiatric diseases, but access to tissues essentially limited postmortem samples. The use of surrogate has become common identifying changes disease. In this study, we determined extent which peripheral can be used as surrogates for brain. Blood, saliva, buccal, and live tissue samples from 27 patients medically intractable epilepsy undergoing resection were collected (age range 5-61 years). Genome-wide was assessed Infinium...
Facial expression recognition suffers under realworldconditions, especially on unseen subjects due to highinter-subject variations. To alleviate variations introduced bypersonal attributes and achieve better facial recognitionperformance, a novel identity-aware convolutional neuralnetwork (IACNN) is proposed. In particular, CNN with newarchitecture employed as individual streams of bi-streamidentity-aware network. An expression-sensitive contrastive lossis developed measure the similarity...
Recent genome-wide association (GWA) studies have identified several unsuspected genes associated with type 2 diabetes (T2D) previously unknown functions. In this investigation, we examined the role of 9 most significant SNPs reported in GWA studies: [peroxisome proliferator-activated receptor gamma (PPARG2; rs 1801282); insulin-like growth factor two binding protein (IGF2BP2; 4402960); cyclin-dependent kinase 5, a regulatory subunit-associated protein1-like 1 (CDK5; rs7754840); zinc...
Next generation sequencing (NGS) has been leading the genetic study of human disease into an era unprecedented productivity. Many bioinformatics pipelines have developed to call variants from NGS data. The performance these depends crucially on variant caller used and calling strategies implemented. We studied four prevailing callers, SAMtools, GATK, glftools Atlas2, using single-sample multiple-sample variant-calling strategies. Using same aligner, BWA, we built three applied whole exome...
Systemic lupus erythematosus (SLE) is a predominantly female autoimmune disease that affects multiple organ systems. Herein, we report on an X-chromosome gene association with SLE. Methyl-CpG-binding protein 2 (MECP2) located chromosome Xq28 and encodes for plays critical role in epigenetic transcriptional regulation of methylation-sensitive genes. Utilizing candidate approach, genotyped 21 SNPs within around MECP2 SLE patients controls. We identify replicate between the genomic element...
Systemic lupus erythematosus (SLE) is an inflammatory autoimmune disease with a strong genetic component. African-Americans (AA) are at increased risk of SLE, but the basis this largely unknown. To identify causal variants in SLE loci AA, we performed admixture mapping followed by fine AA and European-Americans (EA). Through genome-wide identified susceptibility locus 2q22–24 (LOD = 6.28), signal associated European ancestry (ancestry ratio ∼1.5). Large-scale genotypic analysis on 19,726...
Alcohol dependence (AD) and major depression (MD) are leading causes of disability that often co-occur. Genetic epidemiologic data have shown AD MD share a common possible genetic cause. The molecular nature this shared basis is poorly understood.To detect risk variants for comorbid to determine whether polygenic alleles with neuropsychiatric traits or subcortical brain volumes.This genome-wide association study analyzed criterion counts in African American European sets collected as part...
In many healthcare applications, datasets for classification may be highly imbalanced due to the rare occurrence of target events such as disease onset. The SMOTE (Synthetic Minority Over-sampling Technique) algorithm has been developed an effective resampling method data by oversampling samples from minority class. However, generated ambiguous, low-quality and non-separable with majority To enhance quality samples, we proposed a novel self-inspected adaptive (SASMOTE) model that leverages...
Generalizable 3D part segmentation is important but challenging in vision and robotics. Training deep models via conventional supervised methods requires large-scale datasets with fine-grained annotations, which are costly to collect. This paper explores an alternative way for low-shot of point clouds by leveraging a pretrained image-language model, GLIP. achieves superior performance on open-vocabulary 2D detection. We transfer the rich knowledge from through GLIP-based detection cloud...
Abstract Ancestral differences in genomic variation affect the regulation of gene expression; however, most expression studies have been limited to European ancestry samples or adjusted identify ancestry-independent associations. Here, we instead examined impact genetic on and DNA methylation postmortem brain tissue admixed Black American neurotypical individuals ancestry-dependent contributions. Ancestry-associated differentially expressed genes (DEGs), transcripts networks, while notably...
DNA methylation (DNAm) is essential for brain development and function potentially mediates the effects of genetic risk variants underlying disorders. We present INTERACT, a transformer-based deep learning model to predict regulatory affecting DNAm levels in specific cell types, leveraging existing single-nucleus data from human brain. show that INTERACT accurately predicts type–specific profiles, achieving an average area under receiver operating characteristic curve 0.99 across types....
We recently identified a novel non-synonymous variant, rs1143679, at exon 3 of the ITGAM gene associated with systemic lupus erythematosus (SLE) susceptibility in European-Americans (EAs) and African-Americans. Using genome-wide association approach, three other studies also independently reported an between SLE or ITGAM-ITGAX region. The primary objectives this study are to assess whether single multiple causal variants from same any nearby gene(s) involved confirm robust across nine...
Anorexia nervosa and bulimia are common severe eating disorders (EDs) of unknown etiology. Although genetic factors have been implicated in the psychopathology EDs, a clear biological pathway has not delineated. DNA from two large families affected by EDs was collected, mutations segregating with illness were identified whole-genome sequencing following linkage mapping or whole-exome sequencing. In first family, analysis twenty members across three generations rare missense mutation...
Recognizing facial action units (AUs) during spontaneous displays is a challenging problem. Most recently, Convolutional Neural Networks (CNNs) have shown promise for AU recognition, where predefined and fixed convolution filter sizes are employed. In order to achieve the best performance, optimal size often empirically found by conducting extensive experimental validation. Such training process suffers from expensive cost, especially as network becomes deeper. This paper proposes novel...
Abstract DNA methylation (DNAm) is an epigenetic regulator of gene expression and a hallmark gene-environment interaction. Using whole-genome bisulfite sequencing, we have surveyed DNAm in 344 samples human postmortem brain tissue from neurotypical subjects individuals with schizophrenia. We identify genetic influence on local levels throughout the genome, both at CpG sites CpH sites, 86% SNPs 55% CpGs being part quantitative trait loci (meQTLs). These associations can further be clustered...
Abstract Our earlier work has shown that genomic risk for schizophrenia converges with early life complications in affecting the disorder and sex-biased neurodevelopmental trajectories. Here, we identify specific genes potential mechanisms that, placenta, may mediate such outcomes. We performed TWAS healthy term placentae ( N = 147) to derive candidate placental causal confirmed SMR; search placenta schizophrenia-specific associations, an analogous analysis fetal brain 166) additional other...
We introduce OpenShape, a method for learning multi-modal joint representations of text, image, and point clouds. adopt the commonly used contrastive framework representation alignment, but with specific focus on scaling up 3D to enable open-world shape understanding. To achieve this, we scale training data by ensembling multiple datasets propose several strategies automatically filter enrich noisy text descriptions. also explore compare backbone networks novel hard negative mining module...
Abstract The hippocampus contains many unique cell types, which serve the structure’s specialized functions, including learning, memory and cognition. These cells have distinct spatial topography, morphology, physiology, connectivity, highlighting need for transcriptome-wide profiling strategies that retain cytoarchitectural organization. Here, we generated spatially-resolved transcriptomics (SRT) single-nucleus RNA-sequencing (snRNA-seq) data from adjacent tissue sections of anterior human...