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gnomad V4 update for small variants #231

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merged 3 commits into from
Dec 2, 2024
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anjalijain22
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@anjalijain22 anjalijain22 commented Aug 13, 2024

@anjalijain22
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anjalijain22 commented Nov 21, 2024

The issue with missing values in "gnomAD_fafmax_faf95_max" has now been addressed. These values are actually supposed to be zero as discussed on the gnomAD forum.

To include the variants with missing values, I have tweaked the crg2/wrappers/vcf2db/wrapper.py file which updates all NULL values to -1 for gnomad_fafmax_faf95_max column in the gemini DB. Detailed report comparisons can be found here: https://sickkidsca-my.sharepoint.com/:w:/r/personal/anjali_jain_sickkids_ca/_layouts/15/Doc.aspx?sourcedoc=%7BA8E732B2-DC5E-4D27-89BA-0D94F20ADE72%7D&file=gnomAD_v4.1_update.docx&action=default&mobileredirect=true

@anjalijain22 anjalijain22 changed the title gnomad V4 update gnomad V4 update for small variants Nov 26, 2024
@Madelinehazel
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Excellent, made a couple of minor changes in the cre branch.

@Madelinehazel Madelinehazel merged commit 9ae329a into crg2-hg38 Dec 2, 2024
@Madelinehazel Madelinehazel deleted the crg2-hg38-gnomad-v4.1 branch December 2, 2024 15:21
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