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ClinVar variation != "single nucleotide variant" in ADDB 2019+ #169

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krassowski opened this issue Mar 7, 2021 · 0 comments
Open

ClinVar variation != "single nucleotide variant" in ADDB 2019+ #169

krassowski opened this issue Mar 7, 2021 · 0 comments

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@krassowski
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While addressing some automated code complexity warnings over on #168 I noticed that the check for variation_type for ClinVar is correctly executed but there is no following continue instruction that would lead to filtering out non-SNV variants:

variation_type = variation.attrib['Type']
if variation_type != 'single nucleotide variant':
if variation_type not in skipped_variation_types:
print(f'Skipping variation type: {variation_type}')
skipped_variation_types.add(variation_type)

However, it appears likely that they are not included either way, because there is another filter earlier in the pipeline, when the mutations are mapped with annovar:

cat clinvar_annotated.hg19_multianno.txt | awk -F '\t' "BEGIN{print \"$(head clinvar_annotated.hg19_multianno.txt -n 1)\";};\$9 ~ /nonsynonymous SNV/" | gzip > clinvar_muts_annotated.txt.gz

It would be good to investigate this further. For now, I will add a TODO note in the code to highlight this issue.

krassowski added a commit that referenced this issue Mar 7, 2021
@krassowski krassowski changed the title Status of ClinVar variation != "single nucleotide variant" in ADDB 2019+ versions ClinVar variation != "single nucleotide variant" in ADDB 2019+ versions Mar 7, 2021
@krassowski krassowski changed the title ClinVar variation != "single nucleotide variant" in ADDB 2019+ versions ClinVar variation != "single nucleotide variant" in ADDB 2019+ Mar 7, 2021
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