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Tools For Large Indels Discovery In Single-End Rna-Seq Reads

Hi all,Has anyone heard about any tool wich could deal with large indels discovery? I've found some for paired-end reads but never for single-end... My final goal is to find transposable elements...

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Classify Mutations Which Are Found Ny Using Exome Sequencing

Hi, everyone. I used exome sequencing to sequence tumor and blood, and after I remove mutations in blood and snp in dbsnp131, I found I still have about 2000 mutations. I read the exome sequencing...

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CanĀ“T Find The Snps With Samtools (Only Get Indels)

Hello everybody, Could anyone tell me how to get SNPs using SAMtools???. I am learning how to do it but canĀ“t get the SNPs, I only get the Indels. I am working with a mutant I created from an E coli...

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Ngs Tool Analysis For Snp&Indel Calling Of Pooling Data

What are the best and most used analysis tool actually, for SNP and indel calling of pooled data?I'm using: GATK Freebayes that have specified options for data in pool.Now I have found CRISP.Are there...

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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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What Do You Do With Indels Data?

I have a list of insertion and deletion from a whole genome sequence obtained by next generation sequencer, chr, pos and sequence for each indels aligned to our reference genome.I'm not familiar with...

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Extracting Specific Reads From Vcf File

Hello,I am trying to extract indels with coverage ~1 and they are in a VCF file. How do I write a python script or a shell commnad to extract those indels with coverage 1 only? This is the data:chr1...

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Next Gen Sequencing Indel Realignment With The Genome Analysis Toolkit (Gatk)

As I continue to add steps to my SNP/Indel discovery workflow, the latest recommendation is local realignment around Indels using GATK following the initial alignment step. I have just commenced the...

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Anyone Know A *General* Variant (Snp/Indel) Effect Predictor / Annotator?

I'm looking for a general variant annotator ... one that would call a variant as synonymous, non-synonymous, non-genic, UTR, frame-shift, truncation, etc. By general I mean that we should be able to...

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Merging/Concatenating Vcf Files

I have a vcf file of SNPs and another vcf file for my Indels. During SNP calling step by GATK, I created them separately instead of using -glm (calling together SNPs and Indels). Now to get the...

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Frequency Of Homozygous Indels Vs Heterozygous Indels

I have been surprised to read in Genetic Variation in an Individual Human Exome that most of indels in coding regions are homozygous:The HuRef genome contains a total of 739 coding indels, which...

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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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How To Call Variants (Snp, Indel, Sv) On A Bac Contig Aligned With Bwa Mem To...

I aligned a BAC contig (assembled from sanger sequences) to a reference genome using BWA-mem. The output alignments are very similar to the best end to end alignment I got from aligning the bac contig...

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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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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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Samtools: Local Realignment Around Indel

In samtools mpileup, adjust the option -m and -F to control when want to initiate indel realignment, any guideline to set the values for m and F for high coverage data (eg. >=20X)low coverage data...

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Gatk Threshold Parameter For Clipping Of Reads During Indel Calling Running...

GATK 1.6 claims to apply a Q20 threshold to clip ends of the reads for the indel caller:http://www.broadinstitute.org/gatk/guide/article?id=12373. Indel Calling with the Unified Genotyper [...] while...

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Gatk3 Vs Dindel For Small Indel Calling

I read some posts from Heng Li around two years ago that he suggested Dindel is the optimal software for small indel calling. I'm just wondering if this is still true today because GATK seems 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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How Does Left-Alignment Work For Indels? Does It Address All Complicated...

I can vaguely guess its meaning but want to know, at least, how it works in different situations. Besides, after left alignment, can we write an indel in VCF file in a unique way?Thank you!

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