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Update the HGVS annotation #102

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anwarMZ opened this issue Oct 21, 2022 · 2 comments
Open

Update the HGVS annotation #102

anwarMZ opened this issue Oct 21, 2022 · 2 comments
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@anwarMZ @miseminger
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anwarMZ commented Oct 21, 2022

Update the HGVS annotation and subsequently the GVF files to remove p. and c. attached to mutations

e.g. p.T95I should be T95I
@anwarMZ anwarMZ added bug Something isn't working help wanted Extra attention is needed labels Oct 21, 2022
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anwarMZ commented Oct 21, 2022

Replace c. with g. to follow pokay standard genomic mutation

e.g., c.C24034U in S_homoplasy.txt is replaced with g.C24034U

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anwarMZ commented Oct 21, 2022 •
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@Anoosha-Sehar add another column in the functional annotation file for the protein value. This dictionary can be used for mapping genes-proteins https://github.com/cov-lineages/constellations/blob/main/constellations/data/SARS-CoV-2.json

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