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Is It Possible To Get Rs Numbers For Indels?

I am currently designing an Illumina custom GoldenGate platform (for the first time, so with lack of experience..). I have finished the selection of SNPs and I'm ready to submit the list for...

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Tool For Finding Indel In Which Part Of Genes

Are there any tools to help us determine whether an indel lies within a specific part of the gene ( Exon, Intron, ...)?

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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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Large Deletions With Bwa And Single End Reads

Hi, I am trying to detect deletions approximately 66bp in length by mapping 90 base reads to the human genome with BWA (and using GATK). By fine tuning the alignment parameters I have managed to...

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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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Reducing False Positive Indel Calls From Pindel

I am analyzing the specificity of Pindel's indel calls. I have matched tumor/normal WGS data, bwa aligned. The original calls were filtered to remove any that had supporting reads from the normal...

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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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Structural Variation Detection On A Short Reads Simulation

Hi,I am trying to do the following exercise (still playing with indels):simulate short reads (and indels) out of a human genome chromosome,align the short reads simulated in (1),call indels using a SV...

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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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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 Detect Overlaping Indels In Vcf File?

Hi all,I have a vcf file with indels from a whole genome analysis and I want to detect overlapping between indels... I tried to use BEDtools-intersect but it asks for 2 files, and I only have a single...

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Indel Detection For 454 Resequencing

I do some work for a small diagnostics company that has a requirement for small indel detection in 454 data. Those of you familiar with Roche's pipeline will be aware that AVA (Amplicon Variant...

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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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Filtering Vcf File

I was wondering how to filter the vcf file based on a few input arguments ( DP>10, MQ>30 and QD>20 or GT = "1/1" etc)? I m planning to use simple command on the command line to extract 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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What Is The Best Tool For Mouse (Mm9 Or Mm10) Variant Annotations?

I am working with some mouse exome capture data, and I would like to provide functional annotations to variants (SNPs and small indels).For human data, I would typically use ANNOVAR. It looks like...

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SNP and In/Del Counting without Raw Sequence Data

Is there an easy way to do SNP calling on multiple sequences of a gene (from different members in a population) without the raw sequence data?  Most of the tutorials online involve starting from the...

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Sequence Variation Detection For Prokaryotic Genomes

I have resequenced a bacterial genome using SOLiD paired end reads. After looking at SNPs and small Indels, I'm now interested in large Insertions/Deletions (Size of genes and gene clusters).Which...

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Does Anyone Know Of A Publication Reviewing Snp/Indel Finding Algorithms For...

Hi all, Is anyone aware of a good publication that reviews current methods for detecting SNPs/Indels from next gen sequencing data? I have done some searching but so far in vain. It would be great to...

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Genomic Alignment And Snp/Indel Calling - My First Ever "Pipeline"

So I have finally generated some reads and run it through what I guess could be called a very rudimentary 'pipeline'. I generated a million paired end reads with wgsim then aligned with bwa, and used...

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