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  • Exome sequencing for homozygous recessive disease

    I am naive in the field of genomics. Please guide me through these questions.

    If I have exome sequencing data of a family with a homozygous recessive disease, how should I analyze the data?Do we assume that the cases should be homozygous for a given genotype and controls as heterozygous?

    Also, are there any tool/webpage that help us identify known SNPs associated to a particular disease? I want to check if the SNPs that I have obtained are previously known to be associated with my disease of interest?

  • #2
    For your second question, how about ClinVar?
    ClinVar archives and aggregates information about relationships among variation and human health.

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    • #3
      Are you positive that they're homozygous and not compound heterozygous? The latter would be more likely unless they're consanguineous.

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      • #4
        @ dpryan - There is a few incidents of consanguinity in the family but since I am looking at a complex disease (asthma), compound heterozygosity is also a possibility. Can you please tell me how can we decide which model fits best?

        @blancha - Thank you for the suggestion. I would try it.. Thanks again

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        • #5
          There's no hard and fast rule that I'm aware of. In general, the greater the consanguinity the more likely the variant is homozygous.

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          • #6
            okay.. Thanks a lot

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