Skip Ribbon Commands
Skip to main content

Genomics and Bioinformatics Core


Genomics is a crosscutting technology that enables molecular dissection of disease subtypes and mechanisms. Our core was developed to provide sequencing and analysis support for researchers in genomics-based research of patient/research samples. Within Genomics & Bioinformatics Core, Next-Generation Sequencing (NGS) solution was used to support research across NHRIS and extends to projects in collaboration with other institutions. NGS reduces costs yet increases throughput of gene sequencing to meet the requirement of research objective.

We support multiple NGS analysis based on Illlumina platforms such as Targeted-seq, RNA-seq, miRNA-seq and Ribo-seq. This knowledge enables scientists to translate basic research into meaningful insight concerning challenges by many diseases.

Research Area

We use targeted resequencing of NGS approach from Illumina platform to study Inherited Cardiac Condition (ICC) genes among patient/research samples to define pathological mutations causing disease. These mutations will be used to stratify sub-diseases and we hope to use this information to pin down the underlying cause.

Inherited Cardiac Conditions are a diverse group of heart conditions caused by genetic abnormalities and passed down through families. There are many types of ICCs such as long-QT syndrome (LQTS), hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC). They can affect people of any age, and can be life-threatening so improving diagnosis is important for effective treatment.


We have developed jointly with Royal Brompton Hospital, a genetic test kit that uses high-throughput DNA sequencing technology to look for variation in 174 genes that can cause ICCs. The new test panel is comprehensive, accurate and easy to use. Previous genetic tests for inherited heart conditions looked at a smaller number of genes and were only able to identify specific conditions, leading to greater costs, more work, and a longer duration before a diagnosis could be made.

The study of technical performance of the test panel was published in the Journal of Cardiovascular Translational Research. The test panel is currently available for use worldwide by diagnostic and research laboratories.


  1. Pua, C.J. et al. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. Journal of Cardiovascular Translational Research. 9(1):3-11 (2016)      
  2. Ware JS. et al., Shared genetic predisposition in peripartum and dilated cardiomyopathies. N Engl J Med. 374(3):233–241 (2016)
  3. Schafer S, et al., Alternative splicing signatures in RNA-seq data: percent spliced in (PSI).Curr. Protoc. Hum. Genet. 87, 11.16.11–11.16.14 (2015)
  4. Ruklisa D, et al. Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity, Genome Med. 7, 5 (2015)
  5. Roberts AM, et al., Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease, Sci Transl Med. 7, (270):270ra6 (2015)