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konradjk / exac_browser

Browser for ExAC consortium data
http://exac.broadinstitute.org
MIT License
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Hemizygous variants on chromosome X #317

Closed sn4 closed 7 years ago

sn4 commented 7 years ago

Hi,

On the Exac website, can the hemizygous variants on chrX be presumed to be males and homozygous variants presumed to be females?

Its not clear on the web interface nor is there a break up available for variants that are male or female.

Shailender Nagpal

konradjk commented 7 years ago

Yes, exactly! Hemizygous are males, homozygous are females (and by extension, you can compute heterozygous females as: Allele Count - Hemizygous - 2*Homozygous).