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  • EdgeBio
    Member
    • Mar 2012
    • 11

    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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  • GATTACAT
    Reply to Nine Things a Sample Prep Scientist Thinks About Before Sequencing
    by GATTACAT
    Love this - good data definitely starts from good input, and poor input can only give relatively poor data. I particularly like the mention of Nanodrop/absorbance based methods for quantification. It's such a toss up if you'll get an accurate reading or what amounts to a randomly generated number, and a lot of library/sequencing related issues can be traced back to poor quant.
    Yesterday, 11:43 AM
  • SEQadmin2
    Nine Things a Sample Prep Scientist Thinks About Before Sequencing
    by SEQadmin2


    I’m not a sequencing expert. I’m a purification scientist who uses NGS to evaluate workflows my group develops. With this perspective, we think about the sample first and the NGS workflow second. The sequencer is an exceptionally honest reporter, but it can only report on what you give it, so whether you get clean, interpretable data from an NGS workflow is largely determined before you begin.

    Here are nine questions we think about, in roughly the order they matter, before...
    06-18-2026, 07:11 AM

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