Accessing Gender Distribution (XX/XY) in Variant Co-Occurrence

Variant Co-occurrence
1

Hi,

I’m wondering if it’s possible to access the gender distribution (XX/XY) associated with variant co-occurrence data. Could you please let me know how to retrieve this information, if available?

Kind regards,
Lin

2

Hi Lin,

Those data are not available. Is there a critical use case outside of variants on chrX?

Best wishes,
Kaitlin

4

Hi Kaitlin,

Thanks for your reply!

I have some data on germline VUS (variants of uncertain significance) co-occurrence from female breast cancer patients, and I’m interested in examining the frequency of these co-occurring VUS in gnomAD females. My aim is to explore whether these co-occurring VUS variants might provide insight into their potential cancer relevance.

If there are any indirect ways or suggestions you might have for approaching this question given the limitations of the available data, I would greatly appreciate it.

Best regards,
Lin

5

Hi Lin,

Thanks for sharing. Unfortunately, I’m not sure of a great way to add sex information on top of the co-occurrence results. You could look up the allele frequency of the given variants in XX versus XY individuals, but I suspect that won’t be very helpful.

Sorry we can’t provide more insight here.

Best wishes,
Kaitlin