User: roalva1

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roalva160
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Posts by roalva1

<prev • 15 results • page 1 of 2 • next >
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Comment: C: How to get inheritance for gene(or variant) and disease
... Yes, but this has to be done manually, would you know if there is a some database to download? Best ...
written 18 days ago by roalva160
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How to get inheritance for gene(or variant) and disease
... Hello, I would like to get the inheritance of a gene(or variant) with its disease. I am checking clinvar, HGMD but I don't really see the information there. Best ...
gene written 18 days ago by roalva160
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Answer: A: Parse transcript allele to protein
... I know how to do it, whit this library: https://hgvs.readthedocs.io/en/latest/index.html ...
written 8 months ago by roalva160
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Comment: C: Parse transcript allele to protein
... I have a lot of different annotations, bwlow you can see an example of some: NM_000016.4:c.999_1011dupTAGAATGAGTTAC NM_000023.2:c.488dupG NM_000027.3:c.199_200delGA NM_000033.3:c.1489-6delC NM_000033.3:c.1581C>A NM_000033.3:c.1586_1588delGTG NM_000033.3:c.2T>A NM_000033.3:c.494delG NM_000033.3 ...
written 8 months ago by roalva160
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Parse transcript allele to protein
... Hello, I have somthing like NM_000023.2:c.488dupG and I would like to parse it to protein, for example for NM_000016.5:c.127G>A the result would be p.Glu43Lys, would you know if there is any way to do it? I have 2000 to be done, so I should automatize it. Thanks ...
genome written 8 months ago by roalva160
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Download ENCODE data
... Hello, I would like to download ENCODE data without the biosamples and so, like you do in Biomart. I was thinking there is a database of the regulatory elements but I always end up in experiments, do you know how could I do it? Thank you! ...
ensembl encode written 14 months ago by roalva160
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Answer: A: Network analysis software
... If you want not just visualize but analyze I would go for these two tools: From the same author as STRING: SNOW, a web-based tool for the statistical analysis of protein–protein interaction networks http://nar.oxfordjournals.org/content/37/suppl_2/W109.abstract?sid=b02562a2-c08e-46c0-af8a-ad2ddc0 ...
written 2.8 years ago by roalva160
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Pindel Is Not Detecting Long Insertions
... Hello, I am using pindel to detect long insertions, but it doesn't detect anything in any of my samples. However it detects inversions when I say to it not to put it. Why could be this? I called it in 250 samples where I know there are long insertions. arctic monkeys do i wanna know concert ./pin ...
pindel written 4.3 years ago by roalva160 • updated 4.3 years ago by liangkaiye250
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Answer: A: Sample Does Not Contain Any Normals
... I've found the problem. Read names where finish like this: HWI-ST700660:1:2102:9367:69695#ATCACGA instead of HWI-ST700660:1:2102:9367:69695#0/1 So breakdancer was unable to find out anything. Some others softwares like delly are able to do that, and also this ATCACGA thing is standard and in a l ...
written 4.3 years ago by roalva160
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Sample Does Not Contain Any Normals
... Hello, I am calling BreakDancer and I don't get any result. This is the output file #Software: 1.3.7-unstable-6-071043d #Command: /clinicfs/projects/naranjoma/pipeline/code//breakdancer/breakdancer-max sample2.cfg #Library Statistics: sample does not contain any normals #sample2.bam mean:458.89 ...
breakdancer written 4.3 years ago by roalva160

Latest awards to roalva1

Popular Question 8 months ago, created a question with more than 1,000 views. For Pindel Is Not Detecting Long Insertions
Popular Question 2.7 years ago, created a question with more than 1,000 views. For Pindel Is Not Detecting Long Insertions
Popular Question 2.7 years ago, created a question with more than 1,000 views. For Compilation Errors Tigra-Sv

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