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Support hemizygous calls in males on sex chromosomes #62

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hdashnow opened this issue May 14, 2020 · 0 comments

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hdashnow commented May 14, 2020

Hi Harriet—another suggestion would be to support hemizygous calls in males on chrX. This is important for Fragile X and Kennedy disease (SBMA) in particular. You’d have to pass a ped file or sample gender to call.

Could alternatively infer sex from sex chromosome coverage?

hdashnow added the enhancement label

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