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How Are Indel Coded In Vcf Files

Hello,I have a question concerning how are INDEL coded in VCF files. I have for instance the following file:CHROM POS ID REF ALT QUAL FILTER8 18078835 . TTA T 46 PASS8 18078836 . TA T 138 PASSHow to...

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Differences Running Dindel On Different Unix Environments

Hi all, I am hoping to try out dindel for indel-calling on my NGS data but coming up against some problems getting it to work on both institute's computing cluster and my desktop machine. On the...

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Programming Challange: Pairwise Alignments To Multiple Alignment

I have a set of 10-12 very closely related chromosome sequences (from different strains) aligned to a "single" reference chromosome. Now I need to generate multiple sequence alignment of these without...

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Indel Notation In Variant Calling

HelloI am sorry for the basic question but I am struggling to find any details of the nomenclature of indels by variant calling software. Unfortunately i am unable to access the details of the software...

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Merging Vcf Files And Filling In Missing Genotypes

I have vcf files with genomic variants (e.g. SNPs and Indels) from several patients. I now want to merge them into one vcf file e.g. using vcftools' merge-vcf. Doing that I get a file that holds for...

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What Do You Expect As The False Positive And Negative Rate For Snp'S And...

What do you expect as the false positive and negative rate for SNP's and INDELS in a WGS experiment?On which papers and data sets (inhouse or external) do you base this? Edit: Of course this depends on...

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Split Vcf File Into Snps And Indels

Hi there,As recommended in the GATK best practices the Variant Quality Score Recalibration has to be done separately for SNPs and Indels. But, I didn't find the way to do this split in a clean way (for...

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How To Make A Circular Plot Of Snps And Indels ??

Hello everybody,I am analysing SNPs and INDELs in several prokaryotic genomes of the same strain. My goal is to compare them with a reference genome . I would like to learn how to plot the SNPs in a...

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Bwa Indels

Comparing bwa 0.6.2 to bwa 0.5.9 I'm seeing very different behavior around indels. I'm using default options in both cases and as far as I can tell they haven't changed. I'm aligning Illumina paired...

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How Many Is Too Many? Germline And Somatic Coding Indels And Snps In Cancer...

Would anyone care to share their experience with variant calling in cancer genomics using tumor - normal pair to find somatic vs germline variants especially indels?I have been getting an unbelievably...

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What Approach Would You Recommend For Large Indel Detection With Solid Data

I've been spending quite some time on following problem: I sequenced a bacterial genome using paired-end reads (SOLiD) and I have a quite good reference sequence. My goal is to detect changes in the...

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Locating Indels In Gene

I have a excel file from windows (spreadsheet) contains start, end and indel sequences (-GGC means GGC deletion or +AAC means AAC insertion) in column 1, 2 and 3 respectively. I have a reference genome...

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Searching For Deletion In A Low Number Of Reads

Hi everybody,I am having sort of a non-conform problem.we have a mutated mitochondrial genome (circular) of high coverage (~x10k). We know that there are a few deletions and insertions in there due to...

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Tool: Phylosim - Monte Carlo Simulation Of Sequence Evolution In The R...

PhyloSimPhyloSim is an extensible object-oriented framework for the Monte Carlo simulation of sequence evolution written in 100 percent R. It is built on the top of the R.oo and ape packages and uses...

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Extracting Two Bam Files And Indexing Them To Compare Indels

I need to fetch 2 BAM files from an HTTP server and I only need 'chr1' so I'm attempting to use:samtools view -h http://cdna.eva.mpg.de/denisova/alignments/T_hg19_1000g.bam chr1 chr1.bamfor each file...

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Is There A Convention For Representing Indels In Diploid Genome Sequences?

If an individual has a heterozygous indel how should that be represented in a sequence?I am looking for some examples along the lines ofA[C]GT or A[C/-]GT

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Strelka Indel Allele Counts

Hopefully there are some Strelka users out there who can help with this one. I'm looking for allelic counts of the ref and non-ref allele of the indels.I see these flags in the VCF header, do these...

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Trio: Detecting A Large De Novo Indel

I've been given a set of three BAM (father, mother, child) and I expect the child to contains some de-novo heterozygous variations . samtools mpileup have been used to find the small variations but...

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How To Handle Reads Ending With Deletions In Gatk?

Hello,before asking my question, I should point out that I'm working with data that's not my own (publicly available), to learn and establish a proper workflow when real data wlll arrive in the...

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1000 Genomes Indel/Snps File

Is there any place to download 1000 genome SNPs and Indels data in a single merged file for each pilot (pilot 1 , 2 , and 3) ? I am trying to use GATK and thought to use 1KG indels and SNPs vcf files...

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