Questions tagged [indel]

An insertion/deletion sequence variation.

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3
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2answers
63 views

Sort reads in BAM file based on presence of specific deletion?

I have an indexed BAM file containing long-read sequencing data and I'd like to split the reads contained within into those with a known deletion and those without the deletion (I have the deletion ...
0
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0answers
6 views

How do I tell IsoMut2py what to input into mpileup?

Just a warning, this question is extremely specific to the indel-detection software IsoMut2py. The paper for isomut can be found here: https://bmcbioinformatics.biomedcentral.com/articles/10.1186/...
0
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1answer
22 views

How can I extract all known mutations of my BAM (or SNP/INDL files)?

I am using a Genome Explorer tool to see all the mutations on my own DNA. My particular interest is on listing the variants and get their names/ids. Here are a few screenshots: You can see that ...
1
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0answers
18 views

Indel quality from mpileup

Could someone please confirm that I understand this correctly? I have the res and qual columns from mpileup and I would like to match them to get the qual per base. It seems that the indel initiation (...
1
vote
1answer
29 views

Detection of CNV(InDel) of intermediate size

My impression is that small InDel (a couple of bp) is identified through cigar string in BAM and typical CNV (at least thousands of bp) is detected through read depth. What about InDel or CNV with ...
1
vote
4answers
70 views

Find indels between two short sequences

I have two sequences, say AAAGCTCGAGG and AAAGCGAGG. I need a convenient tool which shows me insertions or deletions between these, i.e. in this case something like ...
0
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1answer
23 views

Store and search on variant and annotation data

I need to store a large number of variants with their annotations. I need to import dbSNP, as well as Clinvar, and ExAC etc. Also I have sample variant data from patients. I need to be able to search ...
7
votes
2answers
279 views

How to check if indels in VCF files are left or right aligned?

I downloaded a VCF file from dbSNP, and I'm curious if the indels in the file are left-aligned for GRCH37 genome. The documentation doesn't say anything. How can we tell if a VCF file has left or ...
1
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0answers
39 views

How to select point mutations from MAF file

I am using a mutation MAF file from GDC. I want to select for point mutations, therefore I selected Variant_Classification equal to ...
3
votes
2answers
140 views

Generate SNP/indel annotation in Arabidopsis

I have a genome-wide list of germline SNPs and short indels for Arabidopsis thaliana, which I generated with Varscan. Regardless of the tool used to generate them, I would like to annotate them, i.e. ...
12
votes
1answer
166 views

Is it possible to use SNP heterozygosity as a proxy for Indel heterozygosity?

I have estimated genome-wide heterozygosity levels using maximum likelihood and classical substitution model implemented in package atlas. These estimates are way more robust than classical SNP ...
6
votes
2answers
679 views

What is indel calling and what is its purpose?

I'm having a difficulty in grasping the general purpose and concept of indel calling. What exactly is this process?
4
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1answer
64 views

Best way to detect long insertions in bisulfite sequencing data?

I am interested in identifying indels in whole genome bisulfite sequencing data (76bp paired end). Currently, I do this by setting the -rfg and ...
4
votes
2answers
193 views

After artificially creating events in a FASTA file, how do I keep track of the old coordinates?

I'm beginning with the reference genome in FASTA format, hg19. I am reading the sequence into a Python dictionary with BioPython: ...
6
votes
2answers
338 views

What is the distribution of indel sizes in a healthy human genome? of insertion:deletion ratios?

My understanding is that indels are from 1bp to 10Kb, and a healthy genome has ~400K-500K Indels. Surely most of these are small. What is the distribution of insertion sizes in a healthy human ...
7
votes
1answer
139 views

How can I speed up INDEL calling/correction on BAM files?

The samtools mpileup command has quite a neat feature that it is able to correct mapping errors associated with misalignment of INDELs. By default, the ...