Please add gnomad_num_hemi

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Sergey Naumenko

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Dec 15, 2017, 10:25:13 AM12/15/17
to gemini-variation
Hello Brent!

Thanks for such a useful gemini system!

Would it be possible to add a field with the number of hemizygotes in GNOMAD to variants table, like gnomad_num_hemi?

For example, look at the variant  on the X chromosome
it has 0 hom, and 114 hemi (114 variants in males).

Having gnomad_num_hemi=114 in the database would help to say that it is not a pathogenic variant.

For now, as far as I can see, hemizygotes are not included in het or hom, and that is perfect - it is another field.

Thanks!
Sergey

Sergey Naumenko

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Dec 15, 2017, 10:26:44 AM12/15/17
to gemini-variation
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