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Questions tagged [snv]

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Parsing .vcf file for this information

I have a .vcf file https://www.dropbox.com/s/8v73nppwg3a1tnd/LP2000109-DNA_A01_vs_LP2000103-DNA_A01.SVannotated.txt?dl=0 with this header ...
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1answer
86 views

Tumor sample and heterozygous SNVs: what is the genotype of the normal cells?

In the following picture, you can see that in normal cells (yellow) we have two copies of each gene, while in tumor cells (violet), we just have one copy due to a clonal mono-allelic deletion. I do ...
1
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0answers
41 views

state-of-the-art methods to obtain SNVs from circulating tumor DNA?

What is the state-of-the-art to obtain SNVs from circulating tumor DNA after Illumina sequencing? This is, finding a list of nucleotide locations that show tumour SNVs filtered out of any germline ...
9
votes
1answer
119 views

Expected allele frequency distribution of SNVs in real NGS data

I have a huge amount of ~20x human WGS samples, aligned, and all SNVs that were called with GATK under standard germline parameters set. What I need to do is to model SNVs Allele Frequency (AF) for ...
12
votes
3answers
276 views

Given a VCF of a human genome, how do I assess the quality against known SNVs?

I'm looking for tools to check the quality of a VCF I have of a human genome. I would like to check the VCF against publicly known variants across other human genomes, e.g. how many SNPs are already ...