User: Raony Guimarães
Raony Guimarães • 1000
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- Dublin / Ireland
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PhD in Bioinformatics with experience in developing software and methods to the fields of Precision Medicine and Pharmacogenomics.
Currently working for a company called Genomics Medicine Ireland developing Bioinformatics software for doing NGS analysis.
Posts by Raony Guimarães
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... Hi Kevin, Just a small typo, it's actually:
`gunzip human_g1k_v37.fasta.gz ;` ...
written 3 days ago by
Raony Guimarães • 1000
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... > Is this something sequencing providers or core facilities usually give
> their customers?
No, this is not very common but I can understand why someone would ask for that. (i.e. They prefer to do sample demultiplexing themselves adjusting the penalty parameters or use a different software ra ...
written 3 months ago by
Raony Guimarães • 1000
• updated
3 months ago by
ATpoint ♦ 21k
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... Here you find an explanation about what makes it having high confidence:
https://media.nature.com/original/nature-assets/nature/journal/v491/n7422/extref/nature11632-s1.pdf
It was a combination of multiple strategies. ...
written 5 months ago by
Raony Guimarães • 1000
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... I think you need samples in your vcf to calculate the minor allele frequency. If you are using --allow-no-samples your vcf might have no samples to calculate it from. ...
written 5 months ago by
Raony Guimarães • 1000
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2
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683
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... You could merge the files with bcftools:
bcftools merge -O z -o merged.vcf.gz sample1.vcf.gz sample2.vcf.gz ...
written 7 months ago by
Raony Guimarães • 1000
4
votes
3
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669
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3
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... A map of constrained coding regions in the human genome
https://www.nature.com/articles/s41588-018-0294-6 ...
written 7 months ago by
Raony Guimarães • 1000
12
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3
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669
views
5 follow
3
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... What do you think were the most influential Bioinformatics/Computational Biology Papers/methods/discovery Of 2018?
Previous Discussions
[What Are The Most Influential Bioinformatics/Computational Biology Papers Of 2017?][1]
[What Are The Most Influential Bioinformatics/Computational Biology Paper ...
written 7 months ago by
Raony Guimarães • 1000
• updated
7 months ago by
zx8754 ♦ 8.0k
0
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1
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1.0k
views
1
answers
Answer:
A: Redundant Group Of Proteins.
... I would try to find the minimum amount of common proteins between the 24 organisms. ...
written 8 months ago by
Raony Guimarães • 1000
0
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2
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704
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2
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Answer:
A: How to convert vcf to MAF ?
... Perl method works well and is the most recommend :)
https://github.com/mskcc/vcf2maf
You don't necessarily need an EXaC vcf to annotate, but you will need VEP. ...
written 8 months ago by
Raony Guimarães • 1000
2
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1
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321
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1
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... It really depends on what you want to achieve with this comparison. You could merge all VCFs and do an association analysis between the two populations using plink to find differences between the two groups or you could do a PCA using all samples to see if the two populations have a clear separation ...
written 8 months ago by
Raony Guimarães • 1000
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