SEP 15, 2015 8:00 AM PDT

WEBINAR: Custom Microarray as a Companion Assay for Exome Sequencing

Speaker
  • Director, R & D, Claritas Genomics
    Biography

      Yiping Shen is a ACMG-board certified medical director at Claritas. He has over 20 years’ experience in human genetic research and over 10 years’ experience in clinical molecular testing service. He also directed the R&D activity at the Genetic Diagnostic Laboratory (GDL) at Boston Children’s Hospital and developed and updated many tests including MLPA based targeted copy number tests, microarray based whole genome CNV+SNP test, as well as Sanger and Next Generation Sequencing based tests. He co-directs the R&D at Claritas. He has published numerous articles on the discovery of novel disease genes and contributed to a better understanding of genotype-phenotype correlations that are the basis for clinical interpretation and counseling. His research interests in understanding the genetic causes of pediatric genetic disorders, particularly developmental disorders, provide unique value for the genetic diagnostic testing service for pediatric patient population at Claritas.

      Dr. Shen is a reviewer for more than 10 academic journals and has been invited for many talks both nationally and internationally. He also provides training for research and clinical fellows and teaches for the Harvard Genetic Training program from which he was initially trained. He is an assistant professor at the Pathology Department at Harvard Medical School. He is also on the Faculty at Jiaotong University in Shanghai.

      Dr. Shen received the Master of Science in Developmental Biology at Wuhan University, China. He received his PhD in Pharmacology from Upstate Medical University, Syracuse, New York. He did his clinical genetics fellowship training in the Harvard Genetics Training Program. He is board-certified in Clinical Molecular Genetics. He is a Diplomate of the American Board of Medical Genetics.


    Abstract
    Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represents a robust technical platform for both medical genetics research and clinical services. Next generation sequencing technologies are now being widely used for genome or exome-wide detection of sequence variants. While whole genome and exome sequencing can produce information about large genomic imbalances, there is a sensitivity gap for detecting CNVs at the level at which they will be most useful, namely, at the level of a single exon. Custom microarrays designed to cover specific regions of interest on an exome, or even the whole exome, with high-density copy number probes are able to largely close this gap. We custom-designed and validated a microarray which looks in depth at over 600 clinically-relevant genes in pediatric neurology. We demonstrated that the array can detect copy number variants below a 1 kilobase level and that this level of resolution is necessary for maximal utility and impact.

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

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