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Variant missed in GRCh38 about cpsr HOT 7 CLOSED

sigven avatar sigven commented on May 31, 2024
Variant missed in GRCh38

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Comments (7)

sigven avatar sigven commented on May 31, 2024 2

Yeah, it's on its way. Will try to have it out next week.

best,
Sigve

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sigven avatar sigven commented on May 31, 2024

Hey Vlad,
Sure I'll have a look, just give me a couple of days. WIll get back to you shortly.

best,
Sigve

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sigven avatar sigven commented on May 31, 2024

Just ran the variant against VEP 97 (soon for release with PCGR/CPSR), and it seems to produce similar results for both builds. Results here

I remember there was an existing issue with the cache for 96 (for chromosome 5, interestingly). Could be the root of the cause.

best,
Sigve

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vladsavelyev avatar vladsavelyev commented on May 31, 2024

Thanks Sigve! Seems to be working for me with VEP 97. Accidentally ran PCGR instead of CPSR. Trying CPSR with 97 now.

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vladsavelyev avatar vladsavelyev commented on May 31, 2024

Updated VEP to 97 manually, no luck. I guess I might need the CPSR update as well?

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ohofmann avatar ohofmann commented on May 31, 2024

Thanks so much, Sigve.

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sigven avatar sigven commented on May 31, 2024

Closing this issue for now. ClinVar is updated, so is VEP (98)

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