Overlapping pathogenic de novo CNVs

Neurodevelopmental disorders (NDDs) and congenital anomalies (CAs) are rare disorders with complex etiology. In this study, we investigated the less understood genomic

Single-cell transcriptome identifies FCGR3B

Understanding host cell heterogeneity is critical for unraveling disease mechanism. Utilizing large-scale single-cell transcriptomics, we analyzed multiple tissue spec

Single-cell transcriptome identifies molecular

Understanding host cell heterogeneity is critical for unraveling disease mechanism. Utilizing large-scale single-cell transcriptomics, we analyzed multiple tissue specimens

Analyzing single cell transcriptome data

We describe the protocol for identifying COVID-19 severity specific cell types and their regulatory marker genes using single-cell transcriptomics data. We construct COVID-19 comorbid

Mutational Landscape of Autism Spectrum

Rare post-zygotic mutations in the brain are now known to contribute to several neurodevelopmental disorders, including autism spectrum disorder (ASD). However, due to the limited availability of brain

Whole exome sequencing uncovered highly penetrant

Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely

Detection of copy number variants and genes

Copy number variations (CNVs) are highly implicated in the etiology of neurodevelopmental disorders (NDDs), and chromosomal microarray analysis (CMA) has been recommended as a first-tier test for

Curcumin improves D-galactose and normal-aging

Aging-induced memory impairment is closely associated with oxidative stress. D-Galactose (D-gal) evokes severe oxidative stress and mimics normal aging in animals. Curcumin, a natural flavonoid

NeuroSCORE is a genome-wide omics-based

To identify candidate disease genes of central nervous system (CNS) phenotypes, we created the Neurogenetic Systematic Correlation of Omics-Related Evidence (NeuroSCORE)

Construction of copy number variation landscape

Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children.

Lack of ethnic diversity in single-cell transcriptomics

Perhaps one of the most revolutionary next generation sequencing technologies is single-cell (SC) transcriptomics, which was recognized by Nature in 2013 as the method of the year.