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5 votes
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How can I get a list of papers where a particular mutation has been mentioned?

You could use the pubmed API to query it directly. Typically I use Biopython for my pubmed queries. There are some good examples in the cookbook and on other SO posts. This example from the ...
Bioathlete's user avatar
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4 votes
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How to get unique somatic mutations for each individual patients

If what you want is to split the main VCF file into 1 file per sample, you could use bcftools query and view commands. A similar question was asked on biostars, adapting Jorge Amigo's solution to ...
cmdoret's user avatar
  • 615
4 votes

Is there a aminoacid mutation that forms similar protein?

A mutation is most often likely to be either neutral (no effect) or destabiling (protein misfolds). Changes in activity require changes at the active site or the entranceway to it —which are often ...
Matteo Ferla's user avatar
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3 votes
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>My counter is counting genotypic combination occurences more than once, how do I ensure it counts one combination and doesnt count it again?

Alright, so there are a number of problematic patterns in your code - as far as I understand what you are trying to do. Next time, try to post a reproducible example that people can use and more ...
Bastian Schiffthaler's user avatar
3 votes

Which gene I should select from this qqplot

Given that TP53 is the most significant and is already known to have driver mutations in cancer it would seem to be the logical choice.
Devon Ryan's user avatar
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3 votes
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Comparing two multi-fasta files of the same set of proteins with parser - to find and count mutations after treatment

...
Devon Ryan's user avatar
  • 19.6k
3 votes

Show presence of known mutation in RNA-seq data

If you only have one gene and you only need to do this once then the simplest possible workflow is to generate the aliment using STAR (optimally with the two pass method) and open the two resultant <...
Matt Bashton's user avatar
  • 1,069
3 votes

Show presence of known mutation in RNA-seq data

For counting reads I use mpileup, e.g. samtools mpileup --reference hg38.fa -r Chr10:18000-45500 input.bam, which will give base-resolution coverage for a BAM file. ...
gringer's user avatar
  • 14.3k
3 votes

Why can't AlphaFold predict the consequences of point-mutations?

Other have addressed why AlphaFold2 cannot really get the necessary signal from MSA (Multiple Sequence Alignment) and memory to properly model a variant, but I thought I'd add my observations/rants. I ...
Matteo Ferla's user avatar
  • 4,244
2 votes

Information about control data

Without control data from your subjects, I don't think there's really no way to distinguish somatic mutations from germ-line mutations. The best you can do is to screen out common variants, which are ...
heathobrien's user avatar
  • 1,816
2 votes

State of the art mutation simulation software

Question I suspect this question is about the phylogenetics of methylation and the approach the investigator is proposing would be the last approach to use. Summary The approaches to assess the ...
M__'s user avatar
  • 12.6k
2 votes

Which gene I should select from this qqplot

You can't know which is the driver and which is the carrier. At most you can say that a specific gene deviate more of the expected underlying hypothesis. See also other resources online. You also ...
llrs's user avatar
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2 votes
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How to calculate various properties of a protein structure per atom using PDB2PQR and Rosetta tools (or any other tools)?

Per Atom You are correct. Rosetta scorefunction does not store any per atom data. The scoring operates at the per residue level. Whereas each atom has its coordinates and properties in full atom mode, ...
Matteo Ferla's user avatar
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2 votes
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Is there a tool for synonymous recoding of DNA sequences?

There seems to be a bioconductor package named synmut which does just that. Apparently, it can take codon usage into account when generating synonymous mutations. ...
cmdoret's user avatar
  • 615
2 votes

Error in running Mutect2

Your input file pon.vcf.gz should be a gzip file, but from your file command it looks like it is an HTML file instead. Perhaps ...
winni2k's user avatar
  • 2,286
2 votes
Accepted

calculating mutation frequencies for every gene

The code is fine. The only issue is you'd put \s characters in-between the column header names. I've place an additional "mutation_frequency" column because thats how I'd do it. ...
M__'s user avatar
  • 12.6k
1 vote

Can we do NGS library preparation using UMI with large amount of DNA input?

Whole genome sequencing uses between 50 ng and 1 μg of high-quality DNA (A260/A280: 1.7–2.0) for PCR-amplified or non-amplified libraries if your focus is precision oncology as described in the ...
see_you cu's user avatar
1 vote

Can we do NGS library preparation using UMI with large amount of DNA input?

The question is "Do I add 20-fold more DNA than the kit states?" Its not my area - this is wet-lab - but there will be a tolerance however 20-fold is excessive (>1 log), i.e. no it ...
M__'s user avatar
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1 vote
Accepted

Caching and parallelization

Summarising @Jesse's comment I think is the right answer, open the database outside parallelisation. What I didn't thoroughly describe (and what was essentially requested) is the architecture, the ...
M__'s user avatar
  • 12.6k
1 vote

VCF or BAM file for raw data of gene test?

First of all - I would advise you against concluding anything out of your own analysis of the data, you need to consult someone with appropriate training! Can you get both? The ...
Kamil S Jaron's user avatar
1 vote

Error in running Mutect2

Downloading that vcf file from this link fixes the problem (but generates a new one) ...
Zizogolu's user avatar
  • 2,160
1 vote

Counting the co-occurrence of variants A and B in an aligned sequencing read

Related question: Access base aligned to particular reference position After an initial effort posted here, I ended up rewriting this and testing it a little, and posted the script here. It still has ...
Maximilian Press's user avatar
1 vote

A unified database for CNV, SNP, Indel and MSI

To Answer my own question, one can use variation viewer to get all the information :) DisGeNet is another resource.
Angelo's user avatar
  • 237
1 vote

How do I create a VCF file of all known pathogenic mutations in a gene of interest?

I'm not sure how to generate the additional mutations, but I would say that HGMD is not the way to find all the pathogenic variants. I would probably filter this table by either Clinical significance ...
Emily_Ensembl's user avatar
1 vote
Accepted

Is there a way to customize what observations are plotted in ComplexHeatmap?

What is fed into ComplexHeatmap is what it outputs! So if one of your genes has a Missense_Mutation as well as a ...
haci's user avatar
  • 4,162
1 vote

How to calculate mutation rate and mutation sites in a genome using FASTA file?

You can still align a FASTA file with a tool like bwa mem ( if they are short reads ) or minimap2 for long reads and run it through a variant caller like freebayes. Alternatively, if you have ...
Nicholas Heyer's user avatar
1 vote

Finding difference between groups

Answer from @fabio-marroni, converted from comment: You might try to use mutationalPatterns and see if the responders cluster together and separated from nonresponders.
1 vote
Accepted

Scooping and GeneMatcher

I am having trouble finding anything that directly addresses the issue of failed collaborations leading to scooping, but here are some examples of similar behavior: it is sort of implicit in the ...
Maximilian Press's user avatar
1 vote

Are there databases to annotate non-coding mutations?

VarSome allows you to annotate any variant, including non coding ones. While ACMG classification will not be available if the variant isn't in a gene's transcript (the ACMG criteria are only ...
terdon's user avatar
  • 10.2k
1 vote

Plot a circos plot to show the consistency between 2 samples

A circos plot is most likely not the most appropriate solution here. What I would suggest is a confusion matrix, of which you can find an example here: For every variant in your vcf you'll add a ...
Wouter De Coster's user avatar

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