Questions tagged [variants]
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15
questions
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10 views
HGVS python package : How to parse complex insertions?
In HGVS package, how to create more complex variants ?
I just wonder how can I parse more complex insertions such as those :
...
2
votes
1answer
51 views
Correspondance of SARS-CoV-2 annotations (Nextclade - Pangolin)
Is there any annotation file providing correspondence between Nextclade and Pangolin variant nomenclature/annotations, to annotate some SARS-CoV-2 genomes from Gisaid with both these?
For the moment I ...
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1answer
47 views
Dictionary and index of vcf for base recalibration step
I need suggestions in creating index and dictionary with vcf files. For the base recalibration step, I downloaded Homo_sapiens_assembly38.known_indels.vcf.gz from the given link: https://console.cloud....
2
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1answer
30 views
Counting the co-occurrence of variants A and B in an aligned sequencing read
I need some help getting started on this project.
To simplify we want to be able to quantify the occurrence of 3 variants on each sequencing read in an alignment file as a proxy measurement for ...
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2answers
135 views
Remove repetitive region vcf file using repeatmasker bed file [duplicate]
I have a 1000 genomes vcf file for chromosome 14. And I want to remove variants in repetitive regions flagged by repeatMasker. I have a bed file for those repeats. I downloaded that file from UCSC. ...
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0answers
32 views
Parse RNA variant effect annotations ("r." format)
I've got annotations for splicing variants in a format like this (this is one variant):
Variant: NM_004092.3:c.88+5G>A
Effect: Retention; r.87_88ins1_88+10:p.(Ala31Glufs*23)
I want to extract ...
0
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1answer
187 views
Find common SNPs in multiple VCF files
I have 3 VCF files.
A1.vcf
A2.vcf
A3.vcf
I want to get the common SNPs that are present in all these three files. And output must be in vcf format.
output:
...
7
votes
1answer
44 views
How to represent random sequence elements in SBOL?
In our lab, we work with synthetic biology components with partially random sequences (similar to work in directed evolution). So, for example, we have a plasmid design with several components, ...
1
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1answer
106 views
genotyping or variant calling in R
Are there any good options for calling variants or even just a pileup from R? R is not ideal for this, but I'd like to integrate with other functions.
I found deepSNV::bam2R which roughly does what I ...
0
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1answer
38 views
Inheritance annotation for nsSNPs
I am relatively new to SNP analysis. Is there a database to find annotation about the Mendelian inheritance of SNPs?
I have a small list of nsSNPs (non-synonymous SNPs) and I need to find how they are ...
2
votes
2answers
167 views
Produce .vcf file of ALL mutations in .bam file
I got tasked with a problem, that i thought would be quite simple to solve, but turned out to be quite tricky. Our lab is running targeted mutagenesis experiments in yeast using crispr base editors. ...
1
vote
1answer
63 views
How to compact variant data to their genes without bias?
I have a dataset of genes I am trying to collect data on from public databases, to use as features in machine learning. I am trying to take some features from UCSC genome browser (e.g. number of CpG ...
2
votes
1answer
95 views
SNPEFF genome build with specific codon usage
Failing to build my own Arabidopsis thaliana reference with Mt using 'codon.Mitochondrial' and Pt using 'codon.Bacterial_and_Plant_Plastid' but the same commands works well with both lines with codon ...
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2answers
54 views
Q: What analyses can I perform with a completely phased genome assembly?
Phasing a genome is the process of determining which variants lie on which copy of each chromosome. For example, position 5,430,500 might have an A on the paternal chromosome, but a T base on the ...
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0answers
46 views
Filtering out 8-oxoG-derived artefacts in variant calls from cfDNA
I have cfDNA samples which were sequenced (at about 300-1000X) on a 30-gene panel via a capture-seq protocol for the purposes of calling variants on circulating tumour DNA.
However, the resulting ...
