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  • The Clinical Partner Program

    Exome Sequencing utilizes DNA-enrichment methods and massively parallel nucleotide sequencing to identify protein-coding variants in the genome. Together with growing public databases of known variants, exome sequencing allows for identification of genetic mutations and risk factors in samples that were deemed insufficiently informative for previous genetic studies. Not only does exome sequencing enable identification of mutations in families that were undetectable with linkage disequilibrium and positional cloning methods, but is also more rapid and less expensive. The use of exome sequencing has been successful in the characterization of many rare diseases.

    EdgeBio’s CLIA Exome Test is now available for clinical laboratories to incorporate into their current testing menu. With access to EdgeBio’s marketing and support, your lab will be empowered to offer cutting edge molecular testing to better serve your patient population. The CLIA Exome is a next generation sequencing test, conducted on the Illumina HiSeq 2000.
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  • seqadmin
    Advancing Precision Medicine for Rare Diseases in Children
    by seqadmin




    Many organizations study rare diseases, but few have a mission as impactful as Rady Children’s Institute for Genomic Medicine (RCIGM). “We are all about changing outcomes for children,” explained Dr. Stephen Kingsmore, President and CEO of the group. The institute’s initial goal was to provide rapid diagnoses for critically ill children and shorten their diagnostic odyssey, a term used to describe the long and arduous process it takes patients to obtain an accurate...
    12-16-2024, 07:57 AM
  • seqadmin
    Recent Advances in Sequencing Technologies
    by seqadmin



    Innovations in next-generation sequencing technologies and techniques are driving more precise and comprehensive exploration of complex biological systems. Current advancements include improved accessibility for long-read sequencing and significant progress in single-cell and 3D genomics. This article explores some of the most impactful developments in the field over the past year.

    Long-Read Sequencing
    Long-read sequencing has seen remarkable advancements,...
    12-02-2024, 01:49 PM

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