User: dshdixit

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dshdixit10
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Posts by dshdixit

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Comment: C: gnoMAD specific mutation allele position in gnoMAD
... Yes no more just ΔF508 as its so much beyond it :) Thank you so much! Its very insightful but i did came across a variant where vep gave me correct location of that hgvs description while when using that location in gnomad its not correlating to same hgvs description. For example- c.53+14433G>A ...
written 5 days ago by dshdixit10
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Comment: C: gnoMAD specific mutation allele position in gnoMAD
... Thank you so much for stepwise explaination. But when i put in vep this mutation c.164+3083C>G(intron 2) into this format CFTR:c.164+3083C>G. how should i ensure correct annotation, and when i am copying another mutation by copying and pasting from my excel file for other mutation c.53+26 ...
written 5 days ago by dshdixit10
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Comment: C: gnoMAD specific mutation allele position in gnoMAD
... Thank you so much! Its really helpful to understand the way you explained. Could you kindly explain that how did you find out genomic location for this mutation? ...
written 7 days ago by dshdixit10
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gnoMAD specific mutation allele position in gnoMAD
... I have a specific mutation for the CFTR gene but can't find a way to find that position in order to pull out on gnoMAD as they might have specific annotation for it. For example the mutation i am working on c.164+3083C>G(intron 2) in CFTR gene at position 53298. How can i find it in gnoMAD? ...
gnomad written 8 days ago by dshdixit10 • updated 5 days ago by finswimmer13k
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Comment: C: gnoMAD mutation and essential gene
... Determination depends on how lethal the genes are, like in gnoMAD that have several genes reported in database (~20,000). If there is a way find from it? ...
written 8 days ago by dshdixit10
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Comment: C: gnoMAD mutation and essential gene
... Essential i mean if the critical genes involvement can be predicted over other genes(calling non essential) in different mutation. ...
written 9 days ago by dshdixit10
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gnoMAD mutation and essential gene
... 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 provided?Kindly let me know. ...
genome written 9 days ago by dshdixit10
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Comment: C: how to find essential genes using gnoMAD?
... 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? ...
written 9 days ago by dshdixit10
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Comment: C: how to find essential genes using gnoMAD?
... 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/ ...
written 13 days ago by dshdixit10
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how to find essential genes using gnoMAD?
... how to find essential genes using gnoMAD for different diseases?Is there a specific method we can follow? ...
snp written 15 days ago by dshdixit10 • updated 14 days ago by Pierre Lindenbaum128k

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