Question: how to find essential genes using gnoMAD?
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gravatar for dshdixit
8 months ago by
dshdixit10
dshdixit10 wrote:

how to find essential genes using gnoMAD for different diseases?Is there a specific method we can follow?

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ADD COMMENTlink modified 8 months ago by Pierre Lindenbaum132k • written 8 months ago by dshdixit10
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gravatar for Pierre Lindenbaum
8 months ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum132k wrote:

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes critical for an organism’s function will be depleted for such variants in natural populations, while non-essential genes will tolerate their accumulatio

https://www.biorxiv.org/content/10.1101/531210v4

ADD COMMENTlink written 8 months ago by Pierre Lindenbaum132k

this paper was very useful for me https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23763

ADD REPLYlink modified 8 months ago • written 8 months ago by German.M.Demidov1.9k
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Thank you so much! Also several paper that cite use if gnomad for identifing essential genes but i dont get the method of filtering or analysis? Please help me understand what i am missing to form that bridge? Like in this below paper: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618255/

ADD REPLYlink written 8 months ago by dshdixit10

Thank you so much for this paper. Its very helpful information. When we look at specific mutation in gnoMAD how can i figure out ways to predict essential and non essential gene estimation based on given information?

ADD REPLYlink written 8 months ago by dshdixit10

I think it is not that easy, but o/e score < 0.3 I think gives a hint that the gene is essential =)

ADD REPLYlink written 8 months ago by German.M.Demidov1.9k
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