APR 22, 2021 10:00 AM CEST

Role of Chromosomal Microarray in the Era of Genome Sequencing

Sponsored by: Agilent
Speaker
  • Professor, Department of Obstetrics and Gynaecology ; Deputy Director, Prenatal Genetic Diagnosis Centre, CUHK; Director, Pre-implantation Genetic Diagnosis Laboratory, CUHK
    Biography
      Dr Choy is a Medical Geneticist who works in Department of Obstetrics & Gynaecology, The Chinese University of Hong Kong (CUHK), where he serves as a Professor. Dr. Choy co-founded the Prenatal Genetic Diagnosis Centre and Pre-implantation Genetic Diagnosis Laboratory at CUHK, and has led a number of important milestones in Prenatal Diagnosis which include: A landmark study that established the role of microarray in fetus with high nuchal translucency with normal karyotype. His current research focuses on the development of the genomic technologies including chromosomal microarray analysis (CMA) and Low-pass whole-genome sequencing (Low-pass WGS) for prenatal diagnosis and reproductive medicine.
      He applies state-of-the-art technologies in genomic medicine to study the chromosome structure variants (including blind detection of chromosomal structural rearrangements) in human and to understand the molecular mechanisms of normal and abnormal fetal development with particular focus on birth defects and neurogenetics.
      He is the board member of the Hong Kong Society of Medical Genetics, Vice President (External) of Hong Kong Society of Genetic Counselling. Scientific committee members of various international organizations. Richard has contributed to over 186 articles in international peer review journals with the H index of 36. He is an Editor board member of Human Genetics and Human Genome Variation.



    Abstract
    Date:  April 22, 2021
    Time: 10:00am (CEST),  4:00pm (CST)
     
    Advancements in technologies have revolutionized the genetic landscape. Chromosomal microarray analysis (CMA) becomes a proven method and is implemented to detect gains and losses of DNA and absence of heterozygosity across the genome. Next-generation sequencing technologies have brought opportunities and challenges to genetic testing, its prenatal application is an emerging field. We describe our experience using FetalChip, a CMA for prenatal research developed in our laboratory and describe the role of CMA in the era of genome sequencing.
     
    Learning Objectives
    • The role of chromosomal microarray analysis (CMA) in prenatal genetic clinical research.
    • CMA is a well-established and proven technology to identify pathogenic CNVs
    • The utility of genome sequencing

     

    For Research Use Only. Not for use in diagnostic procedures.
     
     
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