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CenterForMedicalGeneticsGhent / WisecondorX

WisecondorX — An evolved WISECONDOR
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Sex determination #81

Closed smruti241 closed 3 years ago

smruti241 commented 3 years ago

I am using WisecondorX and ot is working perfectly. I just want to clarify, I am running wisecondorX gender command and it is giving correct gender in most of the times, but it depends upon the reference npz files. I want to know if it is giving perfectly correct gender or I need to identify using other tools or algorthim also? Secondly, it is mentioned that atleast 50 reference samples or healthy samples we need for reference, if it is 50 healthy samples, then it will give correct gender for every individual sample? What if I have fetal fraction and it says the sample is female and wisecondorX gender gave male, then what should I do?

leraman commented 3 years ago

Based on your other comments, I'm assuming you use wisecondorx for NIPT? The gender determination algorithm in WisecondorX is not the best for determining the fetal gender. To best determine the fetal gender you should use some custom scripting (like in the PREFACE paper) or use another tool.