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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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@ 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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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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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?
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Metagenomics has improved the way researchers study microorganisms across diverse environments. Historically, studying microorganisms relied on culturing them in the lab, a method that limits the investigation of many species since most are unculturable1. Metagenomics overcomes these issues by allowing the study of microorganisms regardless of their ability to be cultured or the environments they inhabit. Over time, the field has evolved, especially with the advent...-
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During the COVID-19 pandemic, scientists observed that while some individuals experienced severe illness when infected with SARS-CoV-2, others were barely affected. These disparities left researchers and clinicians wondering what causes the wide variations in response to viral infections and what role genetics plays.
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