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Study import QC (ref genome validation + reported trait cleaning) #331

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merged 11 commits into from
Mar 6, 2024

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fyvon
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@fyvon fyvon commented Feb 23, 2024

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@fyvon fyvon requested a review from ens-lgil February 23, 2024 15:34
@fyvon fyvon added the enhancement New feature or request label Feb 23, 2024
else:
match_rate: float = float(match) / (match + mismatch)
report_func(f'Match rate: {match_rate}')
if match_rate < 0.9:
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Should we store the threshold (i.e. 0.9) in a variable, preferably in the config file ?



def get_variation_from_ensembl(rsids: list[str], ref_genome):
url = 'https://grch37.rest.ensembl.org/variation/human/' if ref_genome == '37' else 'https://rest.ensembl.org/variation/human/'
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Should we store the 2 Ensembl URLs in a dictionnary instead ?
e.g.:

servers = {
   '37': 'https://grch37.rest.ensembl.org',
   '38': 'https://rest.ensembl.org/'
}

The root url is also stored in server line 12

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smlmbrt commented Feb 26, 2024

Do we have any README or flowchart describing how it works?

@fyvon fyvon linked an issue Feb 26, 2024 that may be closed by this pull request
@fyvon fyvon merged commit 5a04037 into PGScatalog:master Mar 6, 2024
@fyvon fyvon deleted the improve/qc_variant_positions branch March 6, 2024 12:04
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QC of the variant positions and reported traits during import
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