曦健生物科技(深圳)有限公司
周海鍵(16研究院醫學遺傳學);研究院婦產科學博士生
董梓瑞 婦產科學系助理教授
曹也    兒科及婦產科學系研究助理教授

項目簡介|PROJECT SUMMARY

We pioneer development of robust bioinformatics algorithms and pipelines for the analysis of next-generation sequencing data to detect genomic variants, results interpretation, and visualization. We provide our analysis solutions and in-house phenotype-genotype databases and user-friendly software namely “ChromoSeek” which enable clients/users to interact, visualize, and interpret genomic variant results.

發展階段|STAGE OF DEVELOPMENT

Launched

產品特點|DISTINGUISHED FEATURES

  1. Our bioinformatic pipelines have been robustly validated through clinical research at the Prenatal Genetic Diagnosis Laboratory, CUHK. Our results have been published in numerous international peer-reviewed journals.
  2. We have curated an in-house genetics and disease association database contains over 10,000 clinical cases to facilitate clinical interpretation of genomic variants in human diseases and research.
  3. Our analysis solutions are applicable to different sequencing platforms and provide software for variant visualization for interpretation.
  4. We have developed a user-friendly software namely “ChromoSeek” which enables clients/users to interact, visualize, and interpret genomic variant results from our analysis pipeline.
  5. Our bioinformatic pipelines and ChromoSeek software can be installed on our client’s high performance computing clusters. They can also be packaged into a small-scale server.
  6. We continue to optimize ChromoSeek software to improve the user interface experience. We continue to develop new bioinformatic analysis algorithms for new genomic technologies, including third-generation sequencing.

如何解決市場痛點|RESPONSE TO MARKET PAIN POINTS

Currently, next-generation sequencing is an indispensable technology in genetic disease diagnosis and genomics research. Out of the hundred and thousands of genetic variants that can be identified in each individual genome, medical genetics expertise is imperative for the understanding of the biological and clinical consequences that these variants entail. Next-generation sequencing is widely used, however, many hospitals, laboratories, and researchers do not have the bioinformatics nor medical genetics expertise to make full use of their data. Thus, we provide clinically validated analysis pipelines and clinical interpretation services to clients to empower genetic diagnosis and genomics research through next-generation sequencing.

現在尋找…|LOOKING FOR…

  • 資金 Funding
  • 創業夥伴 Partners
  • 曝光機會 Visibility and Exposure

公司網址|WEBSITE

https://lggxijian.yswebportal.cc

聯絡|CONTACT