Research

Peer-reviewed, and
proud of it

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

Request access Read case studies
Library

Research publications

2024
Research
Genomic Insights from a Deeply Phenotyped Highly Consanguineous Neurodevelopmental Disorders Cohort
The genetic underpinning of neurodevelopmental disorders (NDDs) in diverse ethnic populations, especially those with high rates of consanguinity
2024
Research
oFlowSeq: a quantitative approach to identify protein coding mutations
Cerebral organoids are comprised of diverse cell types found in the developing human brain, and can be leveraged in the identification of critical cel...
2024
Research
Integrative analysis of long isoform sequencing and functional data
Generation of human induced pluripotent stem cells (iPSCs) through reprogramming was a transformational change in the field of regenerative medicine t...
2024
Research
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-linked dystrophin gene. Several mutations have...
2024
Research
Cell-specific MAPT gene expression is preserved in neuronal
Microtubule-associated protein tau (MAPT) aggregates in neurons, astrocytes and oligodendrocytes in a number of neurodegenerative diseases,
2024
Research
Expanding deep phenotypic spectrum associated with atypical pathogenic structural
The 15q11-q13 region is a genetic locus with genes subject to genomic imprinting, significantly influencing neurodevelopment.
2024
Research
SNCA and TPPP transcripts increase in oligodendroglial cytoplasmic inclusions
Multiple system atrophy (MSA) is characterized by glial cytoplasmic inclusions (GCIs) containing aggregated α-synuclein (α-syn) in oligodendrocytes
2024
Research
Neuronal SNCA transcription during Lewy body formation
Misfolded α-synuclein (α-syn) is believed to contribute to neurodegeneration in Lewy body disease (LBD) based on considerable evidence including a gen...
2023
Research
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 2...
2023
Research
Construction of copy number variation landscape
Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children.