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PGS002807 contains variant beyond chromosome size #86

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mfasold opened this issue Apr 12, 2024 · 1 comment
Open

PGS002807 contains variant beyond chromosome size #86

mfasold opened this issue Apr 12, 2024 · 1 comment

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@mfasold
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mfasold commented Apr 12, 2024

I am not sure if this is a database issue, or due to pgscatalog_utils.

If you download the scoring file of PGS002807

pgscatalog-download -i PGS002807 -o . -b GRCh38

the result contains the line

19 101658108 G A 0.0001219005 Author-reported 19 101658108 True True

However, chromosome 19 in hg38 only has a length of 58617616, leading to problems in downstream analyses.

@nebfield
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Thanks for the report! This looks like a validation issue with author-submitted data:

$ pgscatalog-download -i PGS002807 -o . # grab original data submitted by author
$ zgrep 101658108 PGS002807.txt.gz
19	101658108	G	A	0.0001219005

We'll have a look at the score validation process.

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