Home Technology Seminars

Technology Seminar (25 Apr 2013)



Technology Seminar

Mutation Detection Using Next-Gen Sequencing and Novel Bioinformatics Systems, Supported by a Knowledge Base Derived from the Icelandic Sequencing Project


Dr Daniel C. Siu

Vice President, Worldwide Sales and Marketing, deCODE Clinical Systems

25 April 2013 (Thursday)

10:00am – 12:00pm

Seminar Room 7-03

7/F The HK Jockey Club Building for Interdisciplinary Research

5 Sassoon Road, Pokfulam, Hong Kong



In 2011, deCODE Genetics’ nationwide whole genome sequencing & analysis project covering over 300,000 individuals was successfully completed. Through this massive process, deCODE has developed an effective solution designed for diagnostic applications and clinical research using next-gen sequencing technologies. A new entity, provisionally known as deCODE Clinical Systems (dCS), has been formed to enable clinicians to access these capabilities.

The foundation of dCS consists of informatics systems and a knowledge base representing 40 million validated variants derived from the sequencing data. This workflow includes

  • CLIA-, CAP- and ISO 13485-certified next-generation sequencing
  • alignment and variant calling calibrated based on the large cohorts sequenced
  • fully-integrated informatics system to determine candidate mutations at the sequence read level
  • scalable data storage and management system to handle the “big data” challenge
We will present the dCS workflow on the analysis of clinical sequencing data by highlighting a challenging clinical case, previously without a diagnosis.



Co-organized with Apex Genomics Ltd. Apex Genomics Ltd
Refreshment to be served
For enquiries, please call 2831-5500 or write to This e-mail address is being protected from spambots. You need JavaScript enabled to view it