Questions tagged [variants]

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Filtering out 8-oxoG-derived artefacts in variant calls from cfDNA

I have cfDNA samples which were sequenced (at about 300-1000X) on a 30-gene panel via a capture-seq protocol for the purposes of calling variants on circulating tumour DNA. However, the resulting ...
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How to generate variant DNA sequence from an HGVS-formatted variant?

I'm parsing clinvitae using the python hgvs module. For each variant, I want to generate the variant DNA sequence in a 500 bp radius around the variant position. I don't see a way to generate the ...