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  • yl01
    replied
    Anyone has an idea?

    Leave a comment:


  • yl01
    started a topic het/hom ratio of exome samples

    het/hom ratio of exome samples

    We have sequenced whole exomes of a family with monogenic disease. The sequencing was done on Solid 5500 as single-end and data processed by Lifescope. We have got different QC metrics for the produced VCF files. Based on the metrics one sample is standing out because it has a het/hom ratio of 3, and all others have values between 1.4 and 1.6. Of course this sample also has the largest reads output (larger xsq files and bam files) and therefore has the highest number of SNPs (60000 vs. ~50000 from others). Other metrics e.g. Ti/Tv ratio and %dbSNP are fine.

    Googling for "het/hom ratio" I found that in a few published papers this ratio is mostly in a narrow range, 1.4 to 1.6. This makes us worrying if there is something really wrong with this sample. We have asked the people who did the experiment could there be a sample mixup but they cannot tell much. So I would like to hear what are your experiences with het/hom ratio in whole exome samples. Also pointer to references is highly appreciated because I found there are very few papers mentioned this.

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  • seqadmin
    Multiomics Techniques Advancing Disease Research
    by seqadmin


    New and advanced multiomics tools and technologies have opened new avenues of research and markedly enhanced various disciplines such as disease research and precision medicine1. The practice of merging diverse data from various ‘omes increasingly provides a more holistic understanding of biological systems. As Maddison Masaeli, Co-Founder and CEO at Deepcell, aptly noted, “You can't explain biology in its complex form with one modality.”

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