Research Services

Cutting-edge Functional Genomics Solutions for Rare Disease Research

We provide advanced genomic analysis and functional validation services to accelerate your discoveries.

Our Expertise

Whole Exome Sequencing (WES)- Analysis & Reanalysis
We analyze and reanalyze exome sequencing data to uncover disease-relevant coding variants with clinical or research relevance.

Whole Genome Sequencing (WGS)- Analysis & Reanalysis
Comprehensive genome-wide variant discovery, including intronic and intergenic regions, with customizable reanalysis pipelines.

RNA Sequencing (RNA-Seq)
Transcriptome profiling to identify differentially expressed genes, splicing alterations, and pathway changes under various conditions.

Sanger Sequencing
Confirmation of pathogenic variants discovered by next-generation sequencing using Sanger sequencing.

Mini-Gene Assay
Functional assessment of splicing-affecting variants using custom-designed reporter constructs in relevant cellular models.

Expression Analysis (RT-qPCR, Western Blot)
Quantitative mRNA and protein expression analysis to validate gene expression

ATAC-seq
Assay for Transposase-Accessible Chromatin to map genome-wide chromatin accessibility and regulatory element activity.

ChIP-seq
Chromatin immunoprecipitation sequencing to identify genome-wide binding sites of transcription factors or histone modifications.

📩 Contact us to discuss your project needs!