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  • Cancer genomic testing—barriers to NGS clinical utility

    Do you wonder why the power of next generation sequencing has not yet been applied to the timely analysis of pharmacogenomic cancer treatment possibilities for a family member, friend, or neighbor? A recently published article from the Jackson Laboratory for Genomic Medicine located in Farmington, Connecticut USA details various issues that are slowing down the applications of next generation sequencing technology to successful precision cancer therapies and comprehensive cancer genomic profiling (1)
    An innovative cancer-related open knowledgebase, JAX-Clinical Knowledgebase (CKB) has also been recently launched to serve as a public resource for translational and clinical researchers. See https://ckb.jax.org
    Users can link tumor sequence information to regularly updated lists of relevant clinical trials in the US actively recruiting subjects and to appropriate, available targeted therapies. The database also includes regularly updated literature references for a growing number of human cancer biomarkers and related genomic information. (2), (3)

    (1) Barriers preventing the adoption of comprehensive cancer genomic profiling in the clinic
    DOI: 10.1080/14737159.2017.1319280 (If unavailable in your library, request a copy of this article at [email protected])

    (2) Clinical trials in precision oncology
    DOI: 10.1373/clinchem.2015.247437

    (3) The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies
    DOI: 10.1186/s40246-016-0061-7

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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
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    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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