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  • ChiaraGen
    Junior Member
    • Mar 2019
    • 7

    Karyomapping Illumina

    Hello!

    Someone Knows how does it works Karyomapping by Illumina? I know that by SNPs array analysis it permits to reconstruct haplotypes and to knows if a particular mutation is transmitted to embryos; it it true that it could reveal also aneuploidies and balanced translocations?
    I know that with snps arrays is it not possible to identify balanced translocations or invertions but why with Illumina Karyomapping should be possible?
    Thank you very much!

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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.
    07-01-2026, 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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