Research

Peer-reviewed, and
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Horizon's models, pipelines, and clinical workflows are validated in peer-reviewed publications across rare disease, oncology, multi-omics, and population-scale genomics.

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Research publications

2022
Research
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 u...
2021
Research
Single-cell transcriptome identifies FCGR3B
Understanding host cell heterogeneity is critical for unraveling disease mechanism. Utilizing large-scale single-cell transcriptomics, we analyzed mul...
2021
Research
Single-cell transcriptome identifies molecular
Understanding host cell heterogeneity is critical for unraveling disease mechanism. Utilizing large-scale single-cell transcriptomics, we analyzed mul...
2022
Research
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 dat...
2022
Research
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)...
2021
Research
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...
2022
Research
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)...
2022
Research
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 agin...
2022
Research
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 Ev...